C49Y (p.Cys49Tyr) variant of LPA (Apolipoprotein(a))
C49Y (p.Cys49Tyr) in LPA (Apolipoprotein(a)) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
C49Y (p.Cys49Tyr) variant details
- p.Cys49Tyr
- 1000Genomes rs201060881
- ExAC rs201060881
- TOPMed rs201060881
- gnomAD rs201060881
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.52
- MetaLR 0.91
- MetaSVM 0.44
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available