L60F (p.Leu60Phe) variant of APOA5 (Apolipoprotein A-V)
L60F (p.Leu60Phe) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L60F (p.Leu60Phe) variant details
- p.Leu60Phe
- gnomAD 11-116791051-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.09
- CADD 17.40
- PolyPhen-2 0.02
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available