C24Y (p.Cys24Tyr) variant of NCSTN (Nicastrin)
C24Y (p.Cys24Tyr) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
C24Y (p.Cys24Tyr) variant details
- p.Cys24Tyr
- 1000Genomes rs530941300
- ExAC rs530941300
- TOPMed rs530941300
- gnomAD rs530941300
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.27
- ESM-1b 0.10
- AlphaMissense 0.15
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available