R159S (p.Arg159Ser) variant of VCP (P55072)
R159S (p.Arg159Ser) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inclusion body myopathy with Paget disease of bone and frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
R159S (p.Arg159Ser) variant details
- p.Arg159Ser
- rs387906789
- ClinGen CA373289529
- ClinVar RCV001271083
- ClinVar RCV006279524
- Likely pathogenic
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.17
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in IBMPFD1)
- UniProt: Pathogenic (in IBMPFD1)
- Structural context available
- Cited in: Three VCP Mutations in Patients with Frontotemporal Dementia. (PMID 30103325)
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)