G10R (p.Gly10Arg) variant of CLCN1 (Chloride channel protein 1)
G10R (p.Gly10Arg) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- gnomAD rs1051714088
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.17
- CADD 11.30
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available