P49P (p.Pro49Pro) variant of PSEN1 (Presenilin-1)
P49P (p.Pro49Pro) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P49P (p.Pro49Pro) variant details
- p.Pro49Pro
- rs1897867700
- gnomAD 14-73170856-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.62
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available