R76C (p.Arg76Cys) variant of GJA1 (Gap junction alpha-1 protein)
R76C (p.Arg76Cys) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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.
R76C (p.Arg76Cys) variant details
- p.Arg76Cys
- rs267606845
- ClinGen CA365558314
- NCI-TCGA Cosmic COSV9924
- ClinVar RCV003518754
- Likely pathogenic
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.991
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Likely pathogenic (Oculodentodigital dysplasia, autosomal recessive)
- EBI: Likely pathogenic (in ODDD)
- UniProt: Likely pathogenic (in ODDD)
- Structural context available