R53W (p.Arg53Trp) variant of GJA5 (Gap junction alpha-5 protein)
R53W (p.Arg53Trp) in GJA5 (Gap junction alpha-5 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 0.63 / 1. The record also includes population frequency data.
R53W (p.Arg53Trp) variant details
- p.Arg53Trp
- rs1553227081
- NCI-TCGA Cosmic COSV9960
- cosmic curated COSV99605
- gnomAD rs1553227081
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- MetaLR 0.92
- MetaSVM 0.72
- CADD 26.00
- PolyPhen-2 0.85
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)