A4T (p.Ala4Thr) variant of NCSTN (Nicastrin)
A4T (p.Ala4Thr) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- gnomAD 1-160343406-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available