A40V (p.Ala40Val) variant of GJA1 (Gap junction alpha-1 protein)
A40V (p.Ala40Val) 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 not provided; Oculodentodigital dysplasia; Oculodentodigital dysplasia, autosoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- rs1554200992
- ClinGen CA365557952
- ClinVar RCV000504313
- ClinVar RCV002506224
- Pathogenic
- not provided; Oculodentodigital dysplasia; Oculodentodigital dysplasia, autosoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.85
- MetaLR 0.97
- MetaSVM 1.12
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic (not provided; Oculodentodigital dysplasia; Oculodentodigital dys)
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Population evidence available
- Structural context available
- Cited in: Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. (PMID 12457340)
- Cited in: Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. (PMID 14729836)