R19C (p.Arg19Cys) variant of NCSTN (Nicastrin)
R19C (p.Arg19Cys) 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 0.33 / 1. The record also includes population frequency data and structural context.
R19C (p.Arg19Cys) variant details
- p.Arg19Cys
- rs751031803
- ClinGen CA1198551
- ClinVar RCV003726532
- ExAC rs751031803
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 23.00
- PolyPhen-2 0.18
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available