F70L (p.Phe70Leu) variant of APOA5 (Apolipoprotein A-V)
F70L (p.Phe70Leu) in APOA5 (Apolipoprotein A-V) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
F70L (p.Phe70Leu) variant details
- p.Phe70Leu
- Ensembl rs1941000552
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.11
- CADD 9.42
- PolyPhen-2 0.01
- SIFT 0.29
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available