L8V (p.Leu8Val) variant of APOA5 (Apolipoprotein A-V)
L8V (p.Leu8Val) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L8V (p.Leu8Val) variant details
- p.Leu8Val
- gnomAD rs1484509090
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.17
- CADD 12.70
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available