Y97C (p.Tyr97Cys) variant of APOH (Beta-2-glycoprotein 1)
Y97C (p.Tyr97Cys) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Y97C (p.Tyr97Cys) variant details
- p.Tyr97Cys
- ExAC rs764232368
- gnomAD rs764232368
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.23
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available