A12E (p.Ala12Glu) variant of INS (Insulin)
A12E (p.Ala12Glu) in INS (Insulin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A12E (p.Ala12Glu) variant details
- p.Ala12Glu
- ExAC rs777079520
- TOPMed rs777079520
- gnomAD rs777079520
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.67
- MetaLR 0.61
- MetaSVM -0.25
- CADD 22.90
- PolyPhen-2 0.20
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available