A70V (p.Ala70Val) variant of LPA (Apolipoprotein(a))
A70V (p.Ala70Val) in LPA (Apolipoprotein(a)) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A70V (p.Ala70Val) variant details
- p.Ala70Val
- rs544895795
- NCI-TCGA Cosmic COSV6030
- ExAC rs544895795
- TOPMed rs544895795
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.23
- MetaLR 0.24
- MetaSVM -0.87
- CADD 21.20
- PolyPhen-2 0.92
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00091)
- Structural context available