R32Q (p.Arg32Gln) variant of GJB6 (Gap junction beta-6 protein)
R32Q (p.Arg32Gln) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
R32Q (p.Arg32Gln) variant details
- p.Arg32Gln
- rs766604251
- ClinGen CA6904513
- NCI-TCGA Cosmic COSV5383
- cosmic curated COSV53832
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromi
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 1A; Autosomal domi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)