P58S (p.Pro58Ser) variant of CLCN1 (Chloride channel protein 1)
P58S (p.Pro58Ser) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P58S (p.Pro58Ser) variant details
- p.Pro58Ser
- gnomAD 7-143316384-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.32
- CADD 18.80
- PolyPhen-2 0.25
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available