A2V (p.Ala2Val) variant of NCSTN (Nicastrin)
A2V (p.Ala2Val) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 1-160343401-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.52
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available