V13M (p.Val13Met) variant of GJB2 (Gap junction beta-2 protein)
V13M (p.Val13Met) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ichthyosis, hystrix-like, with hearing loss; not specified; Autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
V13M (p.Val13Met) variant details
- p.Val13Met
- rs768130937
- ClinGen CA6904329
- ClinVar RCV000779131
- ClinVar RCV001112644
- Conflicting interpretations
- Ichthyosis, hystrix-like, with hearing loss; not specified; Autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.93
- MetaLR 0.99
- MetaSVM 1.03
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Ichthyosis, hystrix-like, with hearing loss; not specified; Auto)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00051)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)