C60R (p.Cys60Arg) variant of GJB2 (Gap junction beta-2 protein)
C60R (p.Cys60Arg) in GJB2 (Gap junction beta-2 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
C60R (p.Cys60Arg) variant details
- p.Cys60Arg
- TOPMed rs938857026
- gnomAD rs938857026
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.97
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- CADD 26.10
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 1A)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available