Y62C (p.Tyr62Cys) variant of ABCC6 (O95255)
Y62C (p.Tyr62Cys) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Y62C (p.Tyr62Cys) variant details
- p.Tyr62Cys
- ExAC rs774111532
- TOPMed rs774111532
- gnomAD rs774111532
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.31
- CADD 25.40
- PolyPhen-2 0.80
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available