M158V (p.Met158Val) variant of VCP (P55072)
M158V (p.Met158Val) 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 0.71 / 1. The record also includes published literature and structural context.
M158V (p.Met158Val) variant details
- p.Met158Val
- rs1554668813
- ClinGen CA373289580
- ClinVar RCV001953725
- Ensembl rs1554668813
- Pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- AlphaMissense 0.77
- MetaLR 0.92
- MetaSVM 1.01
- PolyPhen-2 0.98
- SIFT 0.08
- EVE 0.09
- ClinVar: Pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)