A26E (p.Ala26Glu) variant of INSR (Insulin receptor)
A26E (p.Ala26Glu) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A26E (p.Ala26Glu) variant details
- p.Ala26Glu
- TOPMed rs1201722489
- gnomAD rs1201722489
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.36
- MetaLR 0.23
- MetaSVM -0.91
- CADD 19.60
- PolyPhen-2 0.08
- SIFT 0.48
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available