H58R (p.His58Arg) variant of LPA (Apolipoprotein(a))
H58R (p.His58Arg) in LPA (Apolipoprotein(a)) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
H58R (p.His58Arg) variant details
- p.His58Arg
- TOPMed rs1377375128
- gnomAD rs1377375128
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.26
- MetaLR 0.33
- MetaSVM -0.75
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available