R44L (p.Arg44Leu) variant of FHL1 (Q13642)
R44L (p.Arg44Leu) in FHL1 (Q13642) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes experimental measurements and structural context.
R44L (p.Arg44Leu) variant details
- p.Arg44Leu
- TOPMed rs11557264
- gnomAD rs11557264
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.439