R19L (p.Arg19Leu) variant of BAG3 (O95817)
R19L (p.Arg19Leu) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R19L (p.Arg19Leu) variant details
- p.Arg19Leu
- gnomAD 10-119651731-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.20
- CADD 24.60
- PolyPhen-2 0.12
- SIFT 0.00
- Population evidence available
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.871
- Literature evidence available