F4F (p.Phe4Phe) variant of PSEN2 (Presenilin-2)
F4F (p.Phe4Phe) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
F4F (p.Phe4Phe) variant details
- p.Phe4Phe
- gnomAD 1-226881919-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 14.90
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available