R59S (p.Arg59Ser) variant of FHL1 (Q13642)
R59S (p.Arg59Ser) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; X-linked myopathy with postural muscle atrophy. The record also includes experimental measurements and structural context.
R59S (p.Arg59Ser) variant details
- p.Arg59Ser
- TOPMed rs1343871742
- gnomAD rs1343871742
- Uncertain significance
- Cardiovascular phenotype; X-linked myopathy with postural muscle atrophy
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype; X-linked myopathy with postural muscle)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.0049