C224W (p.Cys224Trp) variant of FHL1 (Q13642)
C224W (p.Cys224Trp) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; X-linked myopathy with postural muscle atrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
C224W (p.Cys224Trp) variant details
- p.Cys224Trp
- rs122458141
- ClinGen CA255927
- ClinVar RCV000012304
- ClinVar RCV000725941
- Pathogenic/Likely pathogenic
- not provided; X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (not provided; X-linked myopathy with postural muscle atrophy)
- EBI: Pathogenic (in XMPMA)
- UniProt: Pathogenic (in XMPMA)
- Structural context available
- Cited in: An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in… (PMID 18179888)
- Cited in: Consequences of mutations within the C terminus of the FHL1 gene. (PMID 19687455)