S121P (p.Ser121Pro) variant of APOH (Beta-2-glycoprotein 1)
S121P (p.Ser121Pro) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S121P (p.Ser121Pro) variant details
- p.Ser121Pro
- ExAC rs751793235
- gnomAD rs751793235
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.33
- CADD 20.20
- PolyPhen-2 0.54
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available