R143W (p.Arg143Trp) variant of GJB2 (Gap junction beta-2 protein)
R143W (p.Arg143Trp) 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 Mutilating keratoderma; Palmoplantar keratoderma-deafness syndrome; Knuckle pads. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R143W (p.Arg143Trp) variant details
- p.Arg143Trp
- rs80338948
- ClinGen CA172234
- ClinVar RCV000018533
- ClinVar RCV000146023
- Pathogenic/Likely pathogenic
- Mutilating keratoderma; Palmoplantar keratoderma-deafness syndrome; Knuckle pads
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.92
- MetaLR 0.96
- MetaSVM 1.09
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mutilating keratoderma; Palmoplantar keratoderma-deafness syndro)
- EBI: Pathogenic (in DFNB1A)
- UniProt: Pathogenic (in DFNB1A)
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Cited in: Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. (PMID 11439000)
- Cited in: Selection for deafness? (PMID 12457154)