G51A (p.Gly51Ala) variant of CLCN1 (Chloride channel protein 1)
G51A (p.Gly51Ala) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G51A (p.Gly51Ala) variant details
- p.Gly51Ala
- ExAC rs75643846
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.14
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.0015)
- Structural context available