I47T (p.Ile47Thr) variant of FHL1 (Q13642)
I47T (p.Ile47Thr) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I47T (p.Ile47Thr) variant details
- p.Ile47Thr
- gnomAD X-136196840-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 19.10
- Most common in the REMAINING population (allele frequency 2.3e-05)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.0672
- Literature evidence available