T5M (p.Thr5Met) variant of GJB6 (Gap junction beta-6 protein)
T5M (p.Thr5Met) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant nonsyndromic hearing loss 3B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and published literature.
T5M (p.Thr5Met) variant details
- p.Thr5Met
- rs104894414
- ClinGen CA267609
- NCI-TCGA Cosmic COSV5383
- cosmic curated COSV53831
- Pathogenic
- Autosomal dominant nonsyndromic hearing loss 3B
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 15.20
- PolyPhen-2 0.93
- SIFT 0.11
- ClinVar: Pathogenic (Autosomal dominant nonsyndromic hearing loss 3B)
- EBI: Pathogenic (in DFNA3B)
- UniProt: Pathogenic (in DFNA3B)
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Cited in: Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. (PMID 10471490)
- Cited in: The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among… (PMID 20858605)