S4Y (p.Ser4Tyr) variant of CLCN1 (Chloride channel protein 1)
S4Y (p.Ser4Tyr) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S4Y (p.Ser4Tyr) variant details
- p.Ser4Tyr
- gnomAD 7-143316223-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.34
- CADD 17.30
- PolyPhen-2 0.46
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available