E61K (p.Glu61Lys) variant of SLC30A8 (Q8IWU4)
E61K (p.Glu61Lys) in SLC30A8 (Q8IWU4) 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 0.29 / 1. The record also includes population frequency data and structural context.
E61K (p.Glu61Lys) variant details
- p.Glu61Lys
- rs1376637053
- NCI-TCGA Cosmic COSV6997
- cosmic curated COSV69976
- TOPMed rs1376637053
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.18
- MetaLR 0.15
- MetaSVM -1.04
- CADD 20.00
- PolyPhen-2 0.04
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available