R143Q (p.Arg143Gln) variant of GJB2 (Gap junction beta-2 protein)
R143Q (p.Arg143Gln) 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 Knuckle pads, deafness AND leukonychia syndrome; Mutilating keratoderma; Autosom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R143Q (p.Arg143Gln) variant details
- p.Arg143Gln
- rs104894401
- ClinGen CA257677
- NCI-TCGA Cosmic COSV6701
- cosmic curated COSV67010
- Pathogenic/Likely pathogenic
- Knuckle pads, deafness AND leukonychia syndrome; Mutilating keratoderma; Autosom
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.89
- MetaLR 0.97
- MetaSVM 1.11
- CADD 27.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Knuckle pads, deafness AND leukonychia syndrome; Mutilating kera)
- EBI: Pathogenic (in DFNA3A)
- UniProt: Pathogenic (in DFNA3A)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. (PMID 11313763)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)