C27R (p.Cys27Arg) variant of CHD7 (Q9P2D1)
C27R (p.Cys27Arg) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C27R (p.Cys27Arg) variant details
- p.Cys27Arg
- gnomAD 8-60741511-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.30
- MetaLR 0.21
- MetaSVM -0.73
- CADD 23.90
- PolyPhen-2 0.55
- SIFT 0.00
- Population evidence available
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.417
- Literature evidence available