R76H (p.Arg76His) variant of GJA1 (Gap junction alpha-1 protein)
R76H (p.Arg76His) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Oculodentodigital dysplasia, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R76H (p.Arg76His) variant details
- p.Arg76His
- rs267606844
- ClinGen CA127019
- NCI-TCGA Cosmic COSV9924
- ClinVar RCV000018519
- Pathogenic
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.93
- MetaLR 0.97
- MetaSVM 1.10
- CADD 29.20
- PolyPhen-2 0.69
- SIFT 0.03
- ClinVar: Pathogenic (Oculodentodigital dysplasia, autosomal recessive)
- EBI: Pathogenic (in HSS)
- UniProt: Pathogenic (in HSS)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype. (PMID 14974090)
- Cited in: Hallerman-Streiff syndrome: patient with decreased GH and insulin-like growth factor-1. (PMID 14981729)