L8F (p.Leu8Phe) variant of APP (Amyloid-beta precursor protein)
L8F (p.Leu8Phe) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L8F (p.Leu8Phe) variant details
- p.Leu8Phe
- TOPMed rs1712579057
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.23
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available