A28E (p.Ala28Glu) variant of NCSTN (Nicastrin)
A28E (p.Ala28Glu) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A28E (p.Ala28Glu) variant details
- p.Ala28Glu
- gnomAD 1-160343479-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.32
- CADD 24.20
- PolyPhen-2 0.05
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available