P194R (p.Pro194Arg) variant of LPA (Apolipoprotein(a))
P194R (p.Pro194Arg) in LPA (Apolipoprotein(a)) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P194R (p.Pro194Arg) variant details
- p.Pro194Arg
- ExAC rs762524065
- gnomAD rs762524065
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.41
- MetaLR 0.75
- MetaSVM -0.04
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00016)
- Structural context available