S8G (p.Ser8Gly) variant of CHD7 (Q9P2D1)
S8G (p.Ser8Gly) 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, experimental measurements, published literature, and structural context.
S8G (p.Ser8Gly) variant details
- p.Ser8Gly
- gnomAD 8-60741454-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.23
- MetaLR 0.18
- MetaSVM -0.72
- CADD 23.60
- PolyPhen-2 0.26
- SIFT 0.01
- Population evidence available
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.893
- Literature evidence available