S22C (p.Ser22Cys) variant of LPA (Apolipoprotein(a))
S22C (p.Ser22Cys) in LPA (Apolipoprotein(a)) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S22C (p.Ser22Cys) variant details
- p.Ser22Cys
- TOPMed rs1779984814
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -1.01
- CADD 22.70
- PolyPhen-2 0.75
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available