P67Q (p.Pro67Gln) variant of ABCC9 (O60706)
P67Q (p.Pro67Gln) in ABCC9 (O60706) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
P67Q (p.Pro67Gln) variant details
- p.Pro67Gln
- ExAC rs766600615
- TOPMed rs766600615
- gnomAD rs766600615
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.93
- CADD 29.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available