P59H (p.Pro59His) variant of GJA1 (Gap junction alpha-1 protein)
P59H (p.Pro59His) 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.
P59H (p.Pro59His) variant details
- p.Pro59His
- UniProt VAR 058996
- Pathogenic
- in ODDD
- Missense
- MetaLR 0.99
- MetaSVM 1.01
- SIFT 0.00
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available
- Cited in: A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia. (PMID 16219735)
- Cited in: A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital… (PMID 16816024)