A2D (p.Ala2Asp) variant of INS (Insulin)
A2D (p.Ala2Asp) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and published literature.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- gnomAD 11-2160967-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.79
- MetaLR 0.97
- MetaSVM 1.09
- CADD 23.60
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available
- Literature evidence available