R19G (p.Arg19Gly) variant of NCSTN (Nicastrin)
R19G (p.Arg19Gly) 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 0.31 / 1. The record also includes population frequency data and structural context.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- ExAC rs751031803
- TOPMed rs751031803
- gnomAD rs751031803
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 21.60
- PolyPhen-2 0.02
- SIFT 0.31
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available