Q22H (p.Gln22His) variant of CLCN5 (P51795)
Q22H (p.Gln22His) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Q22H (p.Gln22His) variant details
- p.Gln22His
- gnomAD X-50042365-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.13
- MetaLR 0.43
- MetaSVM -0.54
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available