H123R (p.His123Arg) variant of FHL1 (Q13642)
H123R (p.His123Arg) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of X-linked myopathy with postural muscle atrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
H123R (p.His123Arg) variant details
- p.His123Arg
- rs267606812
- ClinGen CA414608363
- ClinVar RCV000646184
- Ensembl rs267606812
- Pathogenic
- X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (X-linked myopathy with postural muscle atrophy)
- EBI: Pathogenic (in RBMX1A)
- UniProt: Pathogenic (in RBMX1A)
- 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)