L20F (p.Leu20Phe) variant of NCSTN (Nicastrin)
L20F (p.Leu20Phe) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
L20F (p.Leu20Phe) variant details
- p.Leu20Phe
- TOPMed rs1285710472
- gnomAD rs1285710472
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 20.40
- PolyPhen-2 0.03
- SIFT 0.25
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available