D20E (p.Asp20Glu) variant of INS (Insulin)
D20E (p.Asp20Glu) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D20E (p.Asp20Glu) variant details
- p.Asp20Glu
- TOPMed rs1357121869
- gnomAD rs1357121869
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.33
- MetaLR 0.69
- MetaSVM -0.21
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.97
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available