G45R (p.Gly45Arg) variant of GJB2 (Gap junction beta-2 protein)
G45R (p.Gly45Arg) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Autosomal recessive nonsyndromic hearing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G45R (p.Gly45Arg) variant details
- p.Gly45Arg
- rs1326514987
- ClinGen CA387461860
- NCI-TCGA Cosmic COSV1012
- cosmic curated COSV10124
- Conflicting interpretations
- Inborn genetic diseases; not provided; Autosomal recessive nonsyndromic hearing
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.90
- MetaLR 0.98
- MetaSVM 1.08
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Autosomal recessive nonsy)
- EBI: Pathogenic (in DFNB1A)
- UniProt: Pathogenic (in DFNB1A)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)