E51D (p.Glu51Asp) variant of INSR (Insulin receptor)
E51D (p.Glu51Asp) 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 0.26 / 1. The record also includes population frequency data and structural context.
E51D (p.Glu51Asp) variant details
- p.Glu51Asp
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10025
- NCI-TCGA Cosmic COSV5716
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.19
- MetaLR 0.38
- MetaSVM -0.68
- CADD 16.80
- PolyPhen-2 0.03
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available