P7P (p.Pro7Pro) variant of PSEN1 (Presenilin-1)
P7P (p.Pro7Pro) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P7P (p.Pro7Pro) variant details
- p.Pro7Pro
- rs116466962
- gnomAD 14-73148040-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 8.04
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available