R53G (p.Arg53Gly) variant of GJA1 (Gap junction alpha-1 protein)
R53G (p.Arg53Gly) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R53G (p.Arg53Gly) variant details
- p.Arg53Gly
- TOPMed rs1189422011
- gnomAD rs1189422011
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.64
- MetaLR 0.85
- MetaSVM 0.75
- CADD 23.70
- PolyPhen-2 0.12
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available