N63D (p.Asn63Asp) variant of GJA1 (Gap junction alpha-1 protein)
N63D (p.Asn63Asp) 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 0.97 / 1. The record also includes structural context.
N63D (p.Asn63Asp) variant details
- p.Asn63Asp
- rs1773900443
- ClinGen CA365558162
- ClinVar RCV002304501
- Pathogenic
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 0.93
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Oculodentodigital dysplasia, autosomal recessive)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available