S4F (p.Ser4Phe) variant of CLCN1 (Chloride channel protein 1)
S4F (p.Ser4Phe) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S4F (p.Ser4Phe) variant details
- p.Ser4Phe
- ExAC rs777366731
- TOPMed rs777366731
- gnomAD rs777366731
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.34
- CADD 15.30
- PolyPhen-2 0.36
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available