P45Q (p.Pro45Gln) variant of DAP3 (P51398)
P45Q (p.Pro45Gln) in DAP3 (P51398) 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 0.27 / 1. The record also includes structural context.
P45Q (p.Pro45Gln) variant details
- p.Pro45Gln
- ESP rs373966776
- ExAC rs373966776
- TOPMed rs373966776
- gnomAD rs373966776
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available