R32K (p.Arg32Lys) variant of NCSTN (Nicastrin)
R32K (p.Arg32Lys) in NCSTN (Nicastrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R32K (p.Arg32Lys) variant details
- p.Arg32Lys
- TOPMed rs1205203955
- gnomAD rs1205203955
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.10
- ESM-1b 0.34
- AlphaMissense 0.14
- MetaLR 0.15
- MetaSVM -0.89
- CADD 12.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available