C31F (p.Cys31Phe) variant of NCSTN (Nicastrin)
C31F (p.Cys31Phe) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
C31F (p.Cys31Phe) variant details
- p.Cys31Phe
- 1000Genomes rs539226938
- ExAC rs539226938
- TOPMed rs539226938
- gnomAD rs539226938
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 25.40
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available