Gene/transcript | Variant | 1CADD | 2SIFT | 3PolyPhen-2 | 4PROVEAN | 5FATHMM | 6GERP++ |
---|
NF1 NM_001042492.3 | c.3277G > A p.Val1093Met | 28.7 | 0.04 | 0.9 | -2.8 | 0.9 | 5.3 |
- 1 CADD, Phred ≤ 20: Natural; Phred > 20: Damaging
- 2 SIFT, score ≤ 0.05: Deleterious; score > 0.05: Tolerable
- 3 PolyPhen-2, score ≤ 0.15: Benign; score > 0.85: Damaging
- 4 PROVEAN, score ≤ -2.5: Deleterious; score > -2.5: Tolerable
- 5 FATHMM, score ≤ 0.5: Neutral; score > 0.5: Deleterious
- 6 GERP + + scores range from − 12.3 to 6.17, higher scores indicating conserve locus.