Q8H (p.Gln8His) variant of CLCN1 (Chloride channel protein 1)
Q8H (p.Gln8His) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
Q8H (p.Gln8His) variant details
- p.Gln8His
- gnomAD 7-143316236-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.13
- CADD 14.20
- PolyPhen-2 0.06
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available