R155L (p.Arg155Leu) variant of VCP (P55072)
R155L (p.Arg155Leu) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
R155L (p.Arg155Leu) variant details
- p.Arg155Leu
- rs121909329
- UniProt VAR 078910
- Ensembl rs121909329
- Pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- AlphaMissense 0.97
- MetaLR 0.91
- MetaSVM 0.98
- PolyPhen-2 0.95
- SIFT 0.01
- EVE 0.10
- ClinVar: Pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- EBI: Pathogenic (in IBMPFD1)
- UniProt: Pathogenic (in IBMPFD1)
- Structural context available
- Cited in: Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel… (PMID 20335036)
- Cited in: Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant… (PMID 15034582)