H23L (p.His23Leu) variant of LPA (Apolipoprotein(a))
H23L (p.His23Leu) 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 0.26 / 1. The record also includes population frequency data and structural context.
H23L (p.His23Leu) variant details
- p.His23Leu
- 1000Genomes rs570996250
- ExAC rs570996250
- TOPMed rs570996250
- gnomAD rs570996250
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.10
- MetaLR 0.18
- MetaSVM -0.83
- CADD 6.87
- PolyPhen-2 0.24
- SIFT 0.76
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available