L14R (p.Leu14Arg) variant of LPA (Apolipoprotein(a))
L14R (p.Leu14Arg) in LPA (Apolipoprotein(a)) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L14R (p.Leu14Arg) variant details
- p.Leu14Arg
- gnomAD rs1242379622
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.45
- MetaLR 0.37
- MetaSVM -0.65
- CADD 26.10
- PolyPhen-2 0.74
- SIFT 0.76
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available