V63A (p.Val63Ala) variant of GJB2 (Gap junction beta-2 protein)
V63A (p.Val63Ala) 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 Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V63A (p.Val63Ala) variant details
- p.Val63Ala
- rs727504309
- ClinGen CA180700
- ClinVar RCV000154364
- ClinVar RCV000711348
- Conflicting interpretations
- Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal d
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.95
- MetaLR 0.98
- MetaSVM 1.07
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing l)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)