R51L (p.Arg51Leu) variant of APOA5 (Apolipoprotein A-V)
R51L (p.Arg51Leu) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R51L (p.Arg51Leu) variant details
- p.Arg51Leu
- TOPMed rs1458297508
- gnomAD rs1458297508
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.17
- CADD 13.90
- PolyPhen-2 0.07
- SIFT 0.03
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available