P47R (p.Pro47Arg) variant of PSEN1 (Presenilin-1)
P47R (p.Pro47Arg) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P47R (p.Pro47Arg) variant details
- p.Pro47Arg
- gnomAD 14-73170849-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.50
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available