V63L (p.Val63Leu) variant of GJB2 (Gap junction beta-2 protein)
V63L (p.Val63Leu) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
V63L (p.Val63Leu) variant details
- p.Val63Leu
- rs370696868
- ClinGen CA6904306
- ClinVar RCV000668102
- ClinVar RCV001857901
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.93
- MetaLR 0.98
- MetaSVM 1.05
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:TU population (allele frequency 0.05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)