Y50S (p.Tyr50Ser) variant of INS (Insulin)
Y50S (p.Tyr50Ser) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
Y50S (p.Tyr50Ser) variant details
- p.Tyr50Ser
- gnomAD 11-2160823-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.82
- MetaLR 0.82
- MetaSVM 0.79
- CADD 25.20
- PolyPhen-2 0.87
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available