R75Q (p.Arg75Gln) variant of GJB6 (Gap junction beta-6 protein)
R75Q (p.Arg75Gln) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from ClinVar 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 0.80 / 1. The record also includes population frequency data and structural context.
R75Q (p.Arg75Gln) variant details
- p.Arg75Gln
- cosmic curated COSV10727
- ExAC rs775911480
- TOPMed rs775911480
- gnomAD rs775911480
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromi
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 1A; Autosomal domi)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available