S50F (p.Ser50Phe) variant of APOH (Beta-2-glycoprotein 1)
S50F (p.Ser50Phe) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S50F (p.Ser50Phe) variant details
- p.Ser50Phe
- ExAC rs771138077
- gnomAD rs771138077
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.20
- CADD 9.00
- PolyPhen-2 0.04
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available