P32Q (p.Pro32Gln) variant of BAG3 (O95817)
P32Q (p.Pro32Gln) in BAG3 (O95817) 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 0.66 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P32Q (p.Pro32Gln) variant details
- p.Pro32Gln
- ExAC rs759915726
- TOPMed rs759915726
- gnomAD rs759915726
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.59
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.55