P5P (p.Pro5Pro) variant of PSEN1 (Presenilin-1)
P5P (p.Pro5Pro) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P5P (p.Pro5Pro) variant details
- p.Pro5Pro
- rs371112119
- gnomAD 14-73148034-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.171
- CADD 12.70
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available