L22F (p.Leu22Phe) variant of BAG3 (O95817)
L22F (p.Leu22Phe) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L22F (p.Leu22Phe) variant details
- p.Leu22Phe
- gnomAD 10-119651741-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.68
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.23
- Literature evidence available