C51R (p.Cys51Arg) variant of APOH (Beta-2-glycoprotein 1)
C51R (p.Cys51Arg) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
C51R (p.Cys51Arg) variant details
- p.Cys51Arg
- gnomAD rs1369724960
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.93
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available