P175R (p.Pro175Arg) variant of GJB2 (Gap junction beta-2 protein)
P175R (p.Pro175Arg) 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 Autosomal dominant keratitis-ichthyosis-hearing loss syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
P175R (p.Pro175Arg) variant details
- p.Pro175Arg
- rs2137307322
- ClinGen CA387460970
- ClinVar RCV001730114
- Ensembl rs2137307322
- Likely pathogenic
- Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.94
- MetaLR 0.95
- MetaSVM 1.08
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal dominant keratitis-ichthyosis-hearing loss syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available