Y13H (p.Tyr13His) variant of ABCC9 (O60706)
Y13H (p.Tyr13His) in ABCC9 (O60706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
Y13H (p.Tyr13His) variant details
- p.Tyr13His
- ExAC rs771346551
- TOPMed rs771346551
- gnomAD rs771346551
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.69
- CADD 25.10
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available