W172R (p.Trp172Arg) variant of GJB2 (Gap junction beta-2 protein)
W172R (p.Trp172Arg) 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; Ichthyosis, hystrix-like, with hearing loss; Autosomal r. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
W172R (p.Trp172Arg) variant details
- p.Trp172Arg
- rs770330002
- ClinGen CA6904247
- ClinVar RCV000673989
- ClinVar RCV001861830
- Pathogenic/Likely pathogenic
- Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal r
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.69
- MetaLR 0.76
- MetaSVM 0.49
- CADD 22.60
- PolyPhen-2 0.28
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing l)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)