G21R (p.Gly21Arg) variant of GJA1 (Gap junction alpha-1 protein)
G21R (p.Gly21Arg) 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 0.94 / 1. The record also includes published literature and structural context.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- rs104893963
- ClinGen CA127012
- ClinVar RCV000018505
- ClinVar RCV006461176
- Pathogenic
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.12
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.84
- ClinVar: Pathogenic (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)