A28S (p.Ala28Ser) variant of NCSTN (Nicastrin)
A28S (p.Ala28Ser) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- gnomAD 1-160343478-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available