L2V (p.Leu2Val) variant of PSEN2 (Presenilin-2)
L2V (p.Leu2Val) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L2V (p.Leu2Val) variant details
- p.Leu2Val
- TOPMed rs199739625
- gnomAD rs199739625
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.43
- CADD 21.20
- PolyPhen-2 0.17
- SIFT 0.04
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available