H55Y (p.His55Tyr) variant of FHL1 (Q13642)
H55Y (p.His55Tyr) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Muscle weakness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes experimental measurements and structural context.
H55Y (p.His55Tyr) variant details
- p.His55Tyr
- rs1603270864
- ClinGen CA414607891
- ClinVar RCV000856703
- Ensembl rs1603270864
- Uncertain significance
- Muscle weakness
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 0.27
- MetaLR 0.59
- MetaSVM -0.03
- PolyPhen-2 0.95
- SIFT 1.00
- EVE 0.35
- ClinVar: Uncertain significance (Muscle weakness)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -1.07