P12L (p.Pro12Leu) variant of NCSTN (Nicastrin)
P12L (p.Pro12Leu) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- ExAC rs773818422
- gnomAD rs773818422
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 4.64
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available