S13C (p.Ser13Cys) variant of CHD2 (O14647)
S13C (p.Ser13Cys) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S13C (p.Ser13Cys) variant details
- p.Ser13Cys
- gnomAD 15-92901274-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.32
- MetaLR 0.39
- MetaSVM -0.33
- CADD 24.40
- PolyPhen-2 0.12
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available