W303R (p.Trp303Arg) variant of CLCN1 (Chloride channel protein 1)
W303R (p.Trp303Arg) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Skeletal muscle channelopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
W303R (p.Trp303Arg) variant details
- p.Trp303Arg
- NCI-TCGA Cosmic COSV1005
- Pathogenic
- Skeletal muscle channelopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.97
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Skeletal muscle channelopathy)
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available