G52E (p.Gly52Glu) variant of ABCC8 (Q09428)
G52E (p.Gly52Glu) in ABCC8 (Q09428) 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 and structural context.
G52E (p.Gly52Glu) variant details
- p.Gly52Glu
- rs1404720025
- NCI-TCGA Cosmic COSV5685
- cosmic curated COSV56856
- TOPMed rs1404720025
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.83
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available