C71R (p.Cys71Arg) variant of FHL1 (Q13642)
C71R (p.Cys71Arg) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked myopathy with postural muscle atrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
C71R (p.Cys71Arg) variant details
- p.Cys71Arg
- rs2148373315
- ClinGen CA414608004
- ClinVar RCV002019454
- Ensembl rs2148373315
- Uncertain significance
- X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.89
- ClinVar: Uncertain significance (X-linked myopathy with postural muscle atrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)