K65R (p.Lys65Arg) variant of CHD7 (Q9P2D1)
K65R (p.Lys65Arg) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K65R (p.Lys65Arg) variant details
- p.Lys65Arg
- gnomAD 8-60741626-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.20
- MetaLR 0.36
- MetaSVM -0.38
- CADD 24.60
- PolyPhen-2 0.90
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available