Q15H (p.Gln15His) variant of CLCN5 (P51795)
Q15H (p.Gln15His) 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.
Q15H (p.Gln15His) variant details
- p.Gln15His
- gnomAD X-50042344-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.18
- MetaLR 0.41
- MetaSVM -0.74
- CADD 13.60
- PolyPhen-2 0.09
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available