C31Y (p.Cys31Tyr) variant of NCSTN (Nicastrin)
C31Y (p.Cys31Tyr) in NCSTN (Nicastrin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
C31Y (p.Cys31Tyr) variant details
- p.Cys31Tyr
- 1000Genomes rs539226938
- ExAC rs539226938
- TOPMed rs539226938
- gnomAD rs539226938
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.24
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available