C27W (p.Cys27Trp) variant of FHL1 (Q13642)
C27W (p.Cys27Trp) 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. The record also includes experimental measurements and structural context.
C27W (p.Cys27Trp) variant details
- p.Cys27Trp
- rs2521248920
- ClinGen CA414607676
- ClinVar RCV004511016
- NCI-TCGA TCGA novel
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score 0.0304