F38L (p.Phe38Leu) variant of BAG3 (O95817)
F38L (p.Phe38Leu) in BAG3 (O95817) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F38L (p.Phe38Leu) variant details
- p.Phe38Leu
- ExAC rs727504929
- TOPMed rs727504929
- gnomAD rs727504929
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.66
- CADD 25.50
- PolyPhen-2 0.16
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.354