R67H (p.Arg67His) variant of FHL1 (Q13642)
R67H (p.Arg67His) 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; Cardiovascular phenotype; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R67H (p.Arg67His) variant details
- p.Arg67His
- rs745544703
- ClinGen CA10524972
- cosmic curated COSV10591
- ClinVar RCV001858826
- Uncertain significance
- X-linked myopathy with postural muscle atrophy; Cardiovascular phenotype; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- AlphaMissense 0.11
- MetaLR 0.60
- MetaSVM -0.20
- PolyPhen-2 0.22
- SIFT 0.28
- EVE 0.39
- ClinVar: Uncertain significance (X-linked myopathy with postural muscle atrophy; Cardiovascular 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)