C124S (p.Cys124Ser) variant of APOH (Beta-2-glycoprotein 1)
C124S (p.Cys124Ser) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
C124S (p.Cys124Ser) variant details
- p.Cys124Ser
- ExAC rs552047225
- TOPMed rs552047225
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.85
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available