I47F (p.Ile47Phe) variant of FHL1 (Q13642)
I47F (p.Ile47Phe) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes experimental measurements and structural context.
I47F (p.Ile47Phe) variant details
- p.Ile47Phe
- rs2073846647
- ClinGen CA414607824
- ClinVar RCV003301917
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- AlphaMissense 0.27
- MetaLR 0.83
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.0672