F39L (p.Phe39Leu) variant of BAG3 (O95817)
F39L (p.Phe39Leu) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F39L (p.Phe39Leu) variant details
- p.Phe39Leu
- gnomAD 10-119651790-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.89
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.205
- Literature evidence available