R32M (p.Arg32Met) variant of NCSTN (Nicastrin)
R32M (p.Arg32Met) in NCSTN (Nicastrin) is a missense change. Clinical records from ClinVar, EBI, 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 0.51 / 1. The record also includes structural context.
R32M (p.Arg32Met) variant details
- p.Arg32Met
- rs1205203955
- ClinGen CA343275173
- ClinVar RCV001908428
- TOPMed rs1205203955
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.15
- MetaSVM -0.89
- PolyPhen-2 0.17
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available