V13D (p.Val13Asp) variant of GJB6 (Gap junction beta-6 protein)
V13D (p.Val13Asp) 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 0.54 / 1. The record also includes population frequency data.
V13D (p.Val13Asp) variant details
- p.Val13Asp
- TOPMed rs1869366480
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromi
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 1A; Autosomal domi)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)