P26L (p.Pro26Leu) variant of PSEN2 (Presenilin-2)
P26L (p.Pro26Leu) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- ExAC rs781116134
- TOPMed rs781116134
- gnomAD rs781116134
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.62
- CADD 20.60
- PolyPhen-2 0.27
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available