R52C (p.Arg52Cys) variant of NCSTN (Nicastrin)
R52C (p.Arg52Cys) 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 0.87 / 1. The record also includes population frequency data and structural context.
R52C (p.Arg52Cys) variant details
- p.Arg52Cys
- TOPMed rs1648366732
- gnomAD rs1648366732
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available