L14P (p.Leu14Pro) variant of FHL1 (Q13642)
L14P (p.Leu14Pro) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- gnomAD X-136196825-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 18.40
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.184
- Literature evidence available