P69R (p.Pro69Arg) variant of PSEN2 (Presenilin-2)
P69R (p.Pro69Arg) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P69R (p.Pro69Arg) variant details
- p.Pro69Arg
- ExAC rs199968912
- gnomAD rs199968912
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.42
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available