Q41H (p.Gln41His) variant of CHD2 (O14647)
Q41H (p.Gln41His) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q41H (p.Gln41His) variant details
- p.Gln41His
- gnomAD 15-92924381-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.07
- MetaLR 0.38
- MetaSVM -0.62
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available