V95M (p.Val95Met) variant of GJB2 (Gap junction beta-2 protein)
V95M (p.Val95Met) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Rare genetic deafness; Mutilating keratoderma; Ichthyosis, hystrix-like, with he. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
V95M (p.Val95Met) variant details
- p.Val95Met
- rs111033299
- ClinGen CA172220
- cosmic curated COSV10532
- ClinVar RCV000037834
- Pathogenic/Likely pathogenic
- Rare genetic deafness; Mutilating keratoderma; Ichthyosis, hystrix-like, with he
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.89
- MetaLR 0.98
- MetaSVM 1.05
- CADD 24.90
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; Mutilating keratoderma; Ichthyosis, hystr)
- EBI: Pathogenic (in DFNB1A)
- UniProt: Pathogenic (in DFNB1A)
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available
- Cited in: Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. (PMID 9529365)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)