R155P (p.Arg155Pro) variant of VCP (P55072)
R155P (p.Arg155Pro) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
R155P (p.Arg155Pro) variant details
- p.Arg155Pro
- rs121909329
- ClinGen CA254404
- ClinVar RCV000008993
- ClinVar RCV001387337
- Conflicting interpretations
- 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: Conflicting classifications of pathogenicity (not provided; Frontotemporal dementia and/or amyotrophic lateral)
- EBI: Pathogenic (in IBMPFD1)
- UniProt: Pathogenic (in IBMPFD1)
- Structural context available
- Cited in: Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant… (PMID 15034582)
- Cited in: A new familial disorder of combined lower motor neuron degeneration and skeletal disorganization. (PMID 7182974)