Q39H (p.Gln39His) variant of CHD7 (Q9P2D1)
Q39H (p.Gln39His) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q39H (p.Gln39His) variant details
- p.Gln39His
- gnomAD 8-60741549-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.19
- MetaLR 0.21
- MetaSVM -0.80
- CADD 22.70
- PolyPhen-2 0.65
- SIFT 0.00
- Population evidence available
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.347
- Literature evidence available