R53Q (p.Arg53Gln) variant of GJA5 (Gap junction alpha-5 protein)
R53Q (p.Arg53Gln) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
R53Q (p.Arg53Gln) variant details
- p.Arg53Gln
- Ensembl rs1663881970
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- MetaLR 0.69
- MetaSVM 0.48
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 3e-05)