A69T (p.Ala69Thr) variant of FHL1 (Q13642)
A69T (p.Ala69Thr) 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; not provided; X-linked myopathy with postural muscle a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A69T (p.Ala69Thr) variant details
- p.Ala69Thr
- rs139625615
- ClinGen CA10524973
- ClinVar RCV000646185
- ClinVar RCV002422347
- Uncertain significance
- Cardiovascular phenotype; not provided; X-linked myopathy with postural muscle a
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- AlphaMissense 0.09
- MetaLR 0.55
- MetaSVM -0.33
- PolyPhen-2 0.11
- SIFT 0.27
- EVE 0.30
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; X-linked myopathy with p)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Emery-Dreifuss Muscular Dystrophy. (PMID 20301609)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)