Y55C (p.Tyr55Cys) variant of APOH (Beta-2-glycoprotein 1)
Y55C (p.Tyr55Cys) in APOH (Beta-2-glycoprotein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
Y55C (p.Tyr55Cys) variant details
- p.Tyr55Cys
- rs748283658
- NCI-TCGA Cosmic COSV9923
- ExAC rs748283658
- TOPMed rs748283658
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.50
- CADD 25.10
- PolyPhen-2 0.96
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available