A2V (p.Ala2Val) variant of INS (Insulin)
A2V (p.Ala2Val) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and published literature.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 11-2160967-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.76
- MetaLR 0.96
- MetaSVM 1.10
- CADD 23.60
- PolyPhen-2 0.49
- SIFT 0.10
- Population evidence available
- Literature evidence available