C169R (p.Cys169Arg) variant of GJB2 (Gap junction beta-2 protein)
C169R (p.Cys169Arg) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Autosomal recessive nonsyndromic hearing loss 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
C169R (p.Cys169Arg) variant details
- p.Cys169Arg
- rs760489970
- ClinGen CA6904253
- ClinVar RCV001374649
- ClinVar RCV003232335
- Likely pathogenic
- not provided; Autosomal recessive nonsyndromic hearing loss 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.96
- MetaLR 0.99
- MetaSVM 0.96
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Autosomal recessive nonsyndromic hearing loss 1A)
- EBI: Likely pathogenic (in dbSNP:rs774518779)
- UniProt: Likely pathogenic (in dbSNP:rs774518779)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)