G22R (p.Gly22Arg) variant of GJA1 (Gap junction alpha-1 protein)
G22R (p.Gly22Arg) 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 0.99 / 1. The record also includes structural context.
G22R (p.Gly22Arg) variant details
- p.Gly22Arg
- rs1773898234
- ClinGen CA365557837
- ClinVar RCV001046978
- Ensembl rs1773898234
- Pathogenic
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.989
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.98
- ClinVar: Pathogenic (Oculodentodigital dysplasia, autosomal recessive)
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available