A37R (p.Ala37Arg) variant of FHL1 (Q13642)
A37R (p.Ala37Arg) in FHL1 (Q13642) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A37R (p.Ala37Arg) variant details
- p.Ala37Arg
- rs1300291330
- gnomAD X-136196858-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.346
- CADD 11.30
- Population evidence available
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.0816
- Literature evidence available