A45V (p.Ala45Val) variant of PSEN2 (Presenilin-2)
A45V (p.Ala45Val) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A45V (p.Ala45Val) variant details
- p.Ala45Val
- ExAC rs751593722
- TOPMed rs751593722
- gnomAD rs751593722
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.44
- CADD 17.60
- PolyPhen-2 0.04
- SIFT 0.26
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available