S44R (p.Ser44Arg) variant of BAG3 (O95817)
S44R (p.Ser44Arg) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S44R (p.Ser44Arg) variant details
- p.Ser44Arg
- gnomAD 10-119651807-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.45
- CADD 23.20
- PolyPhen-2 0.37
- SIFT 0.00
- Population evidence available
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.376
- Literature evidence available