A49V (p.Ala49Val) variant of GJB2 (Gap junction beta-2 protein)
A49V (p.Ala49Val) 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 not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- rs1057517976
- ClinGen CA16042821
- ClinVar RCV000412967
- ClinVar RCV000666314
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.48
- MetaLR 0.89
- MetaSVM 0.98
- CADD 22.60
- PolyPhen-2 0.12
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)