H71N (p.His71Asn) variant of CHD7 (Q9P2D1)
H71N (p.His71Asn) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
H71N (p.His71Asn) variant details
- p.His71Asn
- gnomAD 8-60741643-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.11
- MetaLR 0.07
- MetaSVM -1.07
- CADD 22.70
- PolyPhen-2 0.16
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available