L14M (p.Leu14Met) variant of FHL1 (Q13642)
L14M (p.Leu14Met) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L14M (p.Leu14Met) variant details
- p.Leu14Met
- gnomAD X-136196824-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- CADD 17.30
- Population evidence available
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.184
- Literature evidence available