P57Q (p.Pro57Gln) variant of LPA (Apolipoprotein(a))
P57Q (p.Pro57Gln) in LPA (Apolipoprotein(a)) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P57Q (p.Pro57Gln) variant details
- p.Pro57Gln
- ExAC rs754339898
- TOPMed rs754339898
- gnomAD rs754339898
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.32
- MetaLR 0.42
- MetaSVM -0.59
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available