Q22K (p.Gln22Lys) variant of CLCN5 (P51795)
Q22K (p.Gln22Lys) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Q22K (p.Gln22Lys) variant details
- p.Gln22Lys
- gnomAD X-50042363-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.23
- MetaLR 0.42
- MetaSVM -0.49
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.70
- Population evidence available
- Structural context available
- Literature evidence available