G17S (p.Gly17Ser) variant of CLCN1 (Chloride channel protein 1)
G17S (p.Gly17Ser) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G17S (p.Gly17Ser) variant details
- p.Gly17Ser
- gnomAD 7-143316261-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.45
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available