C27Y (p.Cys27Tyr) variant of CHD7 (Q9P2D1)
C27Y (p.Cys27Tyr) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C27Y (p.Cys27Tyr) variant details
- p.Cys27Tyr
- gnomAD 8-60741512-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.34
- MetaLR 0.25
- MetaSVM -0.62
- CADD 24.10
- PolyPhen-2 0.65
- SIFT 0.00
- Population evidence available
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.417
- Literature evidence available