P69P (p.Pro69Pro) variant of PSEN2 (Presenilin-2)
P69P (p.Pro69Pro) 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.
P69P (p.Pro69Pro) variant details
- p.Pro69Pro
- rs142546082
- gnomAD 1-226883770-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0809
- CADD 0.09
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available