H23R (p.His23Arg) variant of LPA (Apolipoprotein(a))
H23R (p.His23Arg) in LPA (Apolipoprotein(a)) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
H23R (p.His23Arg) variant details
- p.His23Arg
- rs570996250
- ClinGen CA4087208
- ClinVar RCV004181039
- 1000Genomes rs570996250
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.07
- MetaLR 0.14
- MetaSVM -0.88
- CADD 6.63
- PolyPhen-2 0.30
- SIFT 0.67
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available