V52F (p.Val52Phe) variant of GJB6 (Gap junction beta-6 protein)
V52F (p.Val52Phe) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Autosomal dominant nonsyndromic hearing loss 3B; Autoso. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V52F (p.Val52Phe) variant details
- p.Val52Phe
- rs143410202
- ClinGen CA387468729
- ClinVar RCV003788975
- ClinVar RCV006368592
- Uncertain significance
- Inborn genetic diseases; Autosomal dominant nonsyndromic hearing loss 3B; Autoso
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 22.70
- PolyPhen-2 0.80
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases; Autosomal dominant nonsyndromic hearing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)