R19G (p.Arg19Gly) variant of BAG3 (O95817)
R19G (p.Arg19Gly) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- gnomAD 10-119651730-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.18
- CADD 24.00
- PolyPhen-2 0.14
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.871
- Literature evidence available