D47V (p.Asp47Val) variant of GJA1 (Gap junction alpha-1 protein)
D47V (p.Asp47Val) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Oculodentodigital dysplasia, autosomal recessive; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
D47V (p.Asp47Val) variant details
- p.Asp47Val
- rs1554200995
- ClinGen CA365557998
- ClinVar RCV000560533
- ClinVar RCV000998674
- Pathogenic/Likely pathogenic
- Oculodentodigital dysplasia, autosomal recessive; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic/Likely pathogenic (Oculodentodigital dysplasia, autosomal recessive; not provided)
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available