S50Y (p.Ser50Tyr) variant of APOH (Beta-2-glycoprotein 1)
S50Y (p.Ser50Tyr) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S50Y (p.Ser50Tyr) variant details
- p.Ser50Tyr
- ExAC rs771138077
- gnomAD rs771138077
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.23
- CADD 14.10
- PolyPhen-2 0.56
- SIFT 0.08
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available