V123M (p.Val123Met) variant of VCP (P55072)
V123M (p.Val123Met) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.70 / 1. The record also includes published literature and structural context.
V123M (p.Val123Met) variant details
- p.Val123Met
- rs2131038977
- ClinGen CA373292171
- ClinVar RCV001891465
- Ensembl rs2131038977
- Uncertain significance
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- AlphaMissense 0.65
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.12
- ClinVar: Uncertain significance (Inclusion body myopathy with Paget disease of bone and frontotem)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia. (PMID 20301649)