S37F (p.Ser37Phe) variant of CLCN1 (Chloride channel protein 1)
S37F (p.Ser37Phe) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S37F (p.Ser37Phe) variant details
- p.Ser37Phe
- gnomAD 7-143316322-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.40
- CADD 18.30
- PolyPhen-2 0.15
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available