Y40H (p.Tyr40His) variant of INS (Insulin)
Y40H (p.Tyr40His) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Y40H (p.Tyr40His) variant details
- p.Tyr40His
- gnomAD 11-2160854-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.87
- MetaLR 0.83
- MetaSVM 0.82
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available