Y41C (p.Tyr41Cys) variant of APOH (Beta-2-glycoprotein 1)
Y41C (p.Tyr41Cys) in APOH (Beta-2-glycoprotein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
Y41C (p.Tyr41Cys) variant details
- p.Tyr41Cys
- rs1350176353
- ClinGen CA400683903
- ClinVar RCV004417844
- TOPMed rs1350176353
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.50
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available