S51C (p.Ser51Cys) variant of FHL1 (Q13642)
S51C (p.Ser51Cys) in FHL1 (Q13642) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes population frequency data, experimental measurements, and structural context.
S51C (p.Ser51Cys) variant details
- p.Ser51Cys
- TOPMed rs1327221666
- gnomAD rs1327221666
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.487