T47I (p.Thr47Ile) variant of NCSTN (Nicastrin)
T47I (p.Thr47Ile) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
T47I (p.Thr47Ile) variant details
- p.Thr47Ile
- TOPMed rs902411403
- gnomAD rs902411403
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.50
- ESM-1b 1.00
- AlphaMissense 0.67
- CADD 26.00
- PolyPhen-2 0.67
- SIFT 0.02
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available