K22T (p.Lys22Thr) variant of FHL1 (Q13642)
K22T (p.Lys22Thr) 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 0.76 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K22T (p.Lys22Thr) variant details
- p.Lys22Thr
- rs1370793393
- ClinGen CA414607601
- ClinVar RCV001730314
- ClinVar RCV004616764
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- AlphaMissense 0.90
- MetaLR 0.78
- MetaSVM 0.66
- PolyPhen-2 1.00
- SIFT 0.08
- MutPred 0.46
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.201