W77R (p.Trp77Arg) variant of GJB2 (Gap junction beta-2 protein)
W77R (p.Trp77Arg) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Rare genetic deafness; Knuckle pads, deafness AND leukonychia syndrome; Mutilati. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
W77R (p.Trp77Arg) variant details
- p.Trp77Arg
- rs104894397
- ClinGen CA222246
- ClinVar RCV000018526
- ClinVar RCV000080368
- Pathogenic/Likely pathogenic
- Rare genetic deafness; Knuckle pads, deafness AND leukonychia syndrome; Mutilati
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.93
- MetaLR 0.99
- MetaSVM 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; Knuckle pads, deafness AND leukonychia sy)
- EBI: Pathogenic (in DFNB1A)
- UniProt: Pathogenic (in DFNB1A)
- Most common in the Latino/Admixed American population (allele frequency 0.00065)
- Structural context available
- Cited in: Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for… (PMID 9328482)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)