I47I (p.Ile47Ile) variant of FHL1 (Q13642)
I47I (p.Ile47Ile) in FHL1 (Q13642) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I47I (p.Ile47Ile) variant details
- p.Ile47Ile
- gnomAD X-136196841-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.528
- CADD 19.10
- 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 -0.0672
- Literature evidence available