E124K (p.Glu124Lys) variant of INSR (Insulin receptor)
E124K (p.Glu124Lys) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. 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.
E124K (p.Glu124Lys) variant details
- p.Glu124Lys
- rs896894246
- NCI-TCGA Cosmic COSV5717
- cosmic curated COSV57172
- TOPMed rs896894246
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.88
- MetaLR 0.62
- MetaSVM 0.32
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available