R32L (p.Arg32Leu) variant of GJB2 (Gap junction beta-2 protein)
R32L (p.Arg32Leu) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Knuckle pads, dea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R32L (p.Arg32Leu) variant details
- p.Arg32Leu
- rs111033190
- ClinGen CA6904322
- ClinVar RCV000597784
- ClinVar RCV000678865
- Pathogenic/Likely pathogenic
- Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Knuckle pads, dea
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 0.96
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; K)
- EBI: Pathogenic (in dbSNP:rs111033190)
- UniProt: Pathogenic (in dbSNP:rs111033190)
- Most common in the Latino/Admixed American population (allele frequency 0.00018)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)