S31L (p.Ser31Leu) variant of CHD2 (O14647)
S31L (p.Ser31Leu) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S31L (p.Ser31Leu) variant details
- p.Ser31Leu
- gnomAD 15-92924350-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.39
- MetaLR 0.76
- MetaSVM 0.63
- CADD 25.80
- PolyPhen-2 0.97
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available