A543T (p.Ala543Thr) variant of CLCN1 (Chloride channel protein 1)
A543T (p.Ala543Thr) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Skeletal muscle channelopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
A543T (p.Ala543Thr) variant details
- p.Ala543Thr
- NCI-TCGA TCGA novel
- Ensembl rs1803089186
- Likely pathogenic
- Skeletal muscle channelopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.73
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely pathogenic (Skeletal muscle channelopathy)
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available