G10W (p.Gly10Trp) variant of CLCN1 (Chloride channel protein 1)
G10W (p.Gly10Trp) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G10W (p.Gly10Trp) variant details
- p.Gly10Trp
- gnomAD 7-143316240-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.38
- CADD 22.40
- PolyPhen-2 0.50
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available