W26R (p.Trp26Arg) variant of BAG3 (O95817)
W26R (p.Trp26Arg) 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 0.87 / 1. The record also includes population frequency data, experimental measurements, and structural context.
W26R (p.Trp26Arg) variant details
- p.Trp26Arg
- TOPMed rs1846843335
- gnomAD rs1846843335
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.98
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.96
- CADD 31.00
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- BAG3 WW domain domainome 1.0: score 1.02