S54P (p.Ser54Pro) variant of LPA (Apolipoprotein(a))
S54P (p.Ser54Pro) in LPA (Apolipoprotein(a)) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S54P (p.Ser54Pro) variant details
- p.Ser54Pro
- ExAC rs765314362
- TOPMed rs765314362
- gnomAD rs765314362
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.26
- MetaLR 0.33
- MetaSVM -0.66
- CADD 22.20
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available