F23C (p.Phe23Cys) variant of NCSTN (Nicastrin)
F23C (p.Phe23Cys) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
F23C (p.Phe23Cys) variant details
- p.Phe23Cys
- gnomAD rs1648216643
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 25.10
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available