I40T (p.Ile40Thr) variant of NCSTN (Nicastrin)
I40T (p.Ile40Thr) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
I40T (p.Ile40Thr) variant details
- p.Ile40Thr
- ExAC rs780927157
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.96
- Structural context available