A2T (p.Ala2Thr) variant of NCSTN (Nicastrin)
A2T (p.Ala2Thr) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 1-160343400-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.32
- CADD 26.70
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available