R67C (p.Arg67Cys) variant of FHL1 (Q13642)
R67C (p.Arg67Cys) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; X-linked scapuloperoneal muscular dystrophy; X-linked myopathy wi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R67C (p.Arg67Cys) variant details
- p.Arg67Cys
- rs1379221574
- ClinGen CA414607979
- NCI-TCGA Cosmic COSV6178
- cosmic curated COSV61780
- Conflicting interpretations
- not specified; X-linked scapuloperoneal muscular dystrophy; X-linked myopathy wi
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- AlphaMissense 0.21
- MetaLR 0.78
- MetaSVM 0.67
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.54
- ClinVar: Conflicting classifications of pathogenicity (not specified; X-linked scapuloperoneal muscular dystrophy; X-li)
- 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)