S131I (p.Ser131Ile) variant of APOH (Beta-2-glycoprotein 1)
S131I (p.Ser131Ile) in APOH (Beta-2-glycoprotein 1) is a missense change. 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.
S131I (p.Ser131Ile) variant details
- p.Ser131Ile
- TOPMed rs2073417323
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.40
- CADD 15.60
- PolyPhen-2 0.32
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available