C83Y (p.Cys83Tyr) variant of ABCC6 (O95255)
C83Y (p.Cys83Tyr) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
C83Y (p.Cys83Tyr) variant details
- p.Cys83Tyr
- TOPMed rs1277521548
- gnomAD rs1277521548
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.05
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available