A18V (p.Ala18Val) variant of LPA (Apolipoprotein(a))
A18V (p.Ala18Val) in LPA (Apolipoprotein(a)) is a missense change. 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.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- ExAC rs748153271
- gnomAD rs748153271
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.18
- MetaLR 0.29
- MetaSVM -0.74
- CADD 1.75
- PolyPhen-2 0.16
- SIFT 0.64
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available