P12R (p.Pro12Arg) variant of NCSTN (Nicastrin)
P12R (p.Pro12Arg) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P12R (p.Pro12Arg) variant details
- p.Pro12Arg
- ExAC rs773818422
- gnomAD rs773818422
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 9.72
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available