P69L (p.Pro69Leu) variant of PSEN2 (Presenilin-2)
P69L (p.Pro69Leu) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
P69L (p.Pro69Leu) variant details
- p.Pro69Leu
- gnomAD 1-226883769-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.45
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available