T57I (p.Thr57Ile) variant of NCSTN (Nicastrin)
T57I (p.Thr57Ile) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
T57I (p.Thr57Ile) variant details
- p.Thr57Ile
- ExAC rs761996747
- gnomAD rs761996747
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available