E45K (p.Glu45Lys) variant of INS (Insulin)
E45K (p.Glu45Lys) in INS (Insulin) 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 0.64 / 1. The record also includes population frequency data and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- NCI-TCGA Cosmic COSV5174
- cosmic curated COSV51748
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.63
- MetaLR 0.81
- MetaSVM 0.84
- CADD 23.50
- PolyPhen-2 0.47
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available