N4D (p.Asn4Asp) variant of CHD2 (O14647)
N4D (p.Asn4Asp) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
N4D (p.Asn4Asp) variant details
- p.Asn4Asp
- gnomAD 15-92901247-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.33
- MetaLR 0.54
- MetaSVM 0.01
- CADD 24.30
- PolyPhen-2 0.10
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available