D11Y (p.Asp11Tyr) variant of NCSTN (Nicastrin)
D11Y (p.Asp11Tyr) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
D11Y (p.Asp11Tyr) variant details
- p.Asp11Tyr
- gnomAD 1-160343715-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.09
- CADD 12.40
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available