S4P (p.Ser4Pro) variant of CLCN1 (Chloride channel protein 1)
S4P (p.Ser4Pro) 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, published literature, and structural context.
S4P (p.Ser4Pro) variant details
- p.Ser4Pro
- gnomAD 7-143316222-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.52
- CADD 6.90
- PolyPhen-2 0.19
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available