C43C (p.Cys43Cys) variant of FHL1 (Q13642)
C43C (p.Cys43Cys) in FHL1 (Q13642) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C43C (p.Cys43Cys) variant details
- p.Cys43Cys
- gnomAD X-136206525-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.397
- CADD 12.80
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.149
- Literature evidence available