G2V (p.Gly2Val) variant of GJA1 (Gap junction alpha-1 protein)
G2V (p.Gly2Val) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ODDD. The record also includes variant effect predictions, published literature, and structural context.
G2V (p.Gly2Val) variant details
- p.Gly2Val
- UniProt VAR 058990
- Pathogenic
- in ODDD
- Missense
- MetaLR 0.96
- MetaSVM 1.11
- SIFT 0.00
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available
- Cited in: A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features. (PMID 18161618)
- Cited in: A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital… (PMID 16816024)