D6H (p.Asp6His) variant of CHD2 (O14647)
D6H (p.Asp6His) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
D6H (p.Asp6His) variant details
- p.Asp6His
- gnomAD 15-92901253-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.43
- MetaLR 0.67
- MetaSVM 0.45
- CADD 24.90
- PolyPhen-2 0.36
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available