V84L (p.Val84Leu) variant of GJB2 (Gap junction beta-2 protein)
V84L (p.Val84Leu) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not specified; Autosomal recessive nonsyndromic hearing loss 1A; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
V84L (p.Val84Leu) variant details
- p.Val84Leu
- rs104894409
- ClinGen CA234087
- ClinVar RCV000169112
- ClinVar RCV000505951
- Pathogenic
- not specified; Autosomal recessive nonsyndromic hearing loss 1A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.94
- MetaLR 0.98
- MetaSVM 1.08
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not specified; Autosomal recessive nonsyndromic hearing loss 1A;)
- EBI: Pathogenic (in DFNB1A)
- UniProt: Pathogenic (in DFNB1A)
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness. (PMID 15592461)
- Cited in: Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. (PMID 9529365)