E71K (p.Glu71Lys) variant of INSR (Insulin receptor)
E71K (p.Glu71Lys) in INSR (Insulin receptor) 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 0.67 / 1. The record also includes population frequency data and structural context.
E71K (p.Glu71Lys) variant details
- p.Glu71Lys
- NCI-TCGA Cosmic COSV5717
- cosmic curated COSV57170
- gnomAD rs1967785282
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.66
- MetaLR 0.54
- MetaSVM 0.16
- CADD 25.10
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available