H22N (p.His22Asn) variant of CHD2 (O14647)
H22N (p.His22Asn) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H22N (p.His22Asn) variant details
- p.His22Asn
- gnomAD 15-92924322-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.07
- MetaLR 0.41
- MetaSVM -0.71
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.76
- Population evidence available
- Structural context available
- Literature evidence available