L44I (p.Leu44Ile) variant of NCSTN (Nicastrin)
L44I (p.Leu44Ile) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L44I (p.Leu44Ile) variant details
- p.Leu44Ile
- ExAC rs772407803
- TOPMed rs772407803
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 16.70
- PolyPhen-2 0.20
- SIFT 0.29
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available