L7V (p.Leu7Val) variant of GJA1 (Gap junction alpha-1 protein)
L7V (p.Leu7Val) 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.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- UniProt VAR 058991
- Pathogenic
- in ODDD
- Missense
- MetaLR 0.98
- MetaSVM 1.09
- SIFT 0.00
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available
- Cited in: GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. (PMID 19338053)
- Cited in: A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital… (PMID 16816024)