E51K (p.Glu51Lys) variant of INSR (Insulin receptor)
E51K (p.Glu51Lys) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Insulin-resistant diabetes mellitus AND acanthosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E51K (p.Glu51Lys) variant details
- p.Glu51Lys
- rs140852238
- ClinGen CA9136158
- ClinVar RCV000322056
- ClinVar RCV000725827
- Conflicting interpretations
- not specified; not provided; Insulin-resistant diabetes mellitus AND acanthosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.30
- MetaLR 0.51
- MetaSVM -0.18
- CADD 22.20
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Insulin-resistant diabetes mellitus)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAYA population (allele frequency 0.053)
- Structural context available