F184L (p.Phe184Leu) variant of APP (Amyloid-beta precursor protein)
F184L (p.Phe184Leu) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
F184L (p.Phe184Leu) variant details
- p.Phe184Leu
- rs760249418
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10069
- NCI-TCGA Cosmic COSV6099
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 0.87
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.71
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available