C51F (p.Cys51Phe) variant of APOH (Beta-2-glycoprotein 1)
C51F (p.Cys51Phe) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
C51F (p.Cys51Phe) variant details
- p.Cys51Phe
- gnomAD rs1166600072
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.93
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available