A51V (p.Ala51Val) variant of LPA (Apolipoprotein(a))
A51V (p.Ala51Val) in LPA (Apolipoprotein(a)) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A51V (p.Ala51Val) variant details
- p.Ala51Val
- ExAC rs755876095
- TOPMed rs755876095
- gnomAD rs755876095
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.20
- MetaLR 0.13
- MetaSVM -1.03
- CADD 16.50
- PolyPhen-2 0.99
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available