D60E (p.Asp60Glu) variant of INS (Insulin)
D60E (p.Asp60Glu) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
D60E (p.Asp60Glu) variant details
- p.Asp60Glu
- TOPMed rs1243984856
- gnomAD rs1243984856
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.19
- MetaLR 0.43
- MetaSVM -0.71
- CADD 2.20
- PolyPhen-2 0.06
- SIFT 0.92
- Population evidence available
- Structural context available