R11K (p.Arg11Lys) variant of FHL1 (Q13642)
R11K (p.Arg11Lys) 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 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R11K (p.Arg11Lys) variant details
- p.Arg11Lys
- rs1449701149
- ClinGen CA414607438
- ClinVar RCV003177272
- TOPMed rs1449701149
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- AlphaMissense 0.29
- MetaLR 0.51
- MetaSVM -0.18
- PolyPhen-2 0.20
- SIFT 0.37
- MutPred 0.45
- 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 -0.35