V96M (p.Val96Met) variant of GJA1 (Gap junction alpha-1 protein)
V96M (p.Val96Met) 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 0.96 / 1. The record also includes published literature and structural context.
V96M (p.Val96Met) variant details
- p.Val96Met
- rs28931601
- ClinGen CA215134
- ClinVar RCV000018509
- ClinVar RCV005089271
- Pathogenic
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.10
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (Oculodentodigital dysplasia, autosomal recessive)
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available
- Cited in: Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair. (PMID 15108203)
- Cited in: A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital… (PMID 16816024)