R15P (p.Arg15Pro) variant of NCSTN (Nicastrin)
R15P (p.Arg15Pro) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R15P (p.Arg15Pro) variant details
- p.Arg15Pro
- ExAC rs767145960
- TOPMed rs767145960
- gnomAD rs767145960
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available