L18F (p.Leu18Phe) variant of NCSTN (Nicastrin)
L18F (p.Leu18Phe) in NCSTN (Nicastrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
L18F (p.Leu18Phe) variant details
- p.Leu18Phe
- ESP rs376983649
- TOPMed rs376983649
- gnomAD rs376983649
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.15
- ESM-1b 0.19
- AlphaMissense 0.06
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available