C7R (p.Cys7Arg) variant of FHL1 (Q13642)
C7R (p.Cys7Arg) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of FHL1-related disorder; Cardiovascular phenotype. The record also includes experimental measurements and structural context.
C7R (p.Cys7Arg) variant details
- p.Cys7Arg
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10060
- Uncertain significance
- FHL1-related disorder; Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (FHL1-related disorder; Cardiovascular phenotype)
- UniProt: Uncertain significance
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.125