L14F (p.Leu14Phe) variant of FHL1 (Q13642)
L14F (p.Leu14Phe) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FHL1-related disorder. The record also includes experimental measurements and structural context.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- rs2521247546
- ClinGen CA414607489
- ClinVar RCV003410886
- Uncertain significance
- FHL1-related disorder
- Missense
- ClinVar: Uncertain significance (FHL1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.184