F100S (p.Phe100Ser) variant of APOH (Beta-2-glycoprotein 1)
F100S (p.Phe100Ser) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
F100S (p.Phe100Ser) variant details
- p.Phe100Ser
- TOPMed rs894371590
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.71
- CADD 25.60
- PolyPhen-2 0.93
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available