P194L (p.Pro194Leu) variant of LPA (Apolipoprotein(a))
P194L (p.Pro194Leu) 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.
P194L (p.Pro194Leu) variant details
- p.Pro194Leu
- ExAC rs762524065
- gnomAD rs762524065
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.39
- MetaLR 0.69
- MetaSVM -0.11
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00018)
- Structural context available