P28P (p.Pro28Pro) variant of PSEN2 (Presenilin-2)
P28P (p.Pro28Pro) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P28P (p.Pro28Pro) variant details
- p.Pro28Pro
- rs371475270
- gnomAD 1-226881991-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0819
- CADD 0.17
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available