V52L (p.Val52Leu) variant of GJB2 (Gap junction beta-2 protein)
V52L (p.Val52Leu) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive nonsyndromic hearing loss 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V52L (p.Val52Leu) variant details
- p.Val52Leu
- rs1555341987
- ClinGen CA6904310
- ClinVar RCV000670560
- gnomAD rs1555341987
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.55
- MetaLR 0.91
- MetaSVM 0.35
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)