R53C (p.Arg53Cys) variant of GJA1 (Gap junction alpha-1 protein)
R53C (p.Arg53Cys) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R53C (p.Arg53Cys) variant details
- p.Arg53Cys
- rs1189422011
- NCI-TCGA Cosmic COSV5699
- TOPMed rs1189422011
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.70
- MetaLR 0.89
- MetaSVM 0.93
- CADD 27.20
- PolyPhen-2 0.56
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available