R75W (p.Arg75Trp) variant of GJB6 (Gap junction beta-6 protein)
R75W (p.Arg75Trp) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal recessive nonsyndromic hearing loss 1B; Autosomal dominant nonsyndromi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R75W (p.Arg75Trp) variant details
- p.Arg75Trp
- rs2137333664
- ClinGen CA387468573
- NCI-TCGA Cosmic COSV1043
- cosmic curated COSV10438
- Conflicting interpretations
- Autosomal recessive nonsyndromic hearing loss 1B; Autosomal dominant nonsyndromi
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive nonsyndromic hearing loss 1B; Autosomal domi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)