A12E (p.Ala12Glu) variant of INSR (Insulin receptor)
A12E (p.Ala12Glu) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A12E (p.Ala12Glu) variant details
- p.Ala12Glu
- Ensembl rs1600141287
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.40
- MetaLR 0.24
- MetaSVM -0.94
- CADD 13.30
- PolyPhen-2 0.02
- SIFT 0.93
- Population evidence available
- Structural context available