E13K (p.Glu13Lys) variant of GJA5 (Gap junction alpha-5 protein)
E13K (p.Glu13Lys) 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 0.80 / 1. The record also includes population frequency data.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- NCI-TCGA Cosmic COSV5478
- cosmic curated COSV54785
- Ensembl rs2148959514
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- MetaLR 0.92
- MetaSVM 0.94
- CADD 23.10
- PolyPhen-2 0.85
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)