S50A (p.Ser50Ala) variant of GJB1 (Gap junction beta-1 protein)
S50A (p.Ser50Ala) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth Neuropathy X; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S50A (p.Ser50Ala) variant details
- p.Ser50Ala
- rs913934445
- ClinGen CA330997669
- ClinVar RCV003105078
- ClinVar RCV005419592
- Uncertain significance
- Charcot-Marie-Tooth Neuropathy X; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.43
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (Charcot-Marie-Tooth Neuropathy X; not specified)
- EBI: Likely pathogenic (in CMTX1)
- UniProt: Likely pathogenic (in CMTX1)
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)