R76S (p.Arg76Ser) variant of GJA1 (Gap junction alpha-1 protein)
R76S (p.Arg76Ser) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Oculodentodigital dysplasia, autosomal recessive; Oculodentodigita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
R76S (p.Arg76Ser) variant details
- p.Arg76Ser
- rs267606845
- ClinGen CA127020
- ClinVar RCV000018520
- ClinVar RCV000430201
- Pathogenic/Likely pathogenic
- not provided; Oculodentodigital dysplasia, autosomal recessive; Oculodentodigita
- Missense
- Variant Prioritization Score for Impact Estimate 0.991
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic/Likely pathogenic (not provided; Oculodentodigital dysplasia, autosomal recessive;)
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available
- Cited in: Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. (PMID 12457340)
- Cited in: A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital… (PMID 16816024)