R52P (p.Arg52Pro) variant of NCSTN (Nicastrin)
R52P (p.Arg52Pro) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
R52P (p.Arg52Pro) variant details
- p.Arg52Pro
- Ensembl rs1557881394
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available