V280M (p.Val280Met) variant of FHL1 (Q13642)
V280M (p.Val280Met) 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 0.38 / 1. The record also includes published literature and structural context.
V280M (p.Val280Met) variant details
- p.Val280Met
- rs267606811
- ClinGen CA255929
- ClinVar RCV000012315
- UniProt VAR 075359
- Pathogenic
- X-linked myopathy with postural muscle atrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- AlphaMissense 0.39
- MetaLR 0.17
- MetaSVM -0.93
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.63
- ClinVar: Pathogenic (X-linked myopathy with postural muscle atrophy)
- EBI: Pathogenic (in XMPMA)
- UniProt: Pathogenic (in XMPMA)
- Structural context available
- Cited in: Consequences of mutations within the C terminus of the FHL1 gene. (PMID 19687455)
- Cited in: An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in… (PMID 18179888)