G156S (p.Gly156Ser) variant of VCP (P55072)
G156S (p.Gly156Ser) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.68 / 1. The record also includes published literature and structural context.
G156S (p.Gly156Ser) variant details
- p.Gly156Ser
- rs1554668817
- ClinGen CA373289624
- ClinVar RCV003037322
- ClinVar RCV005227805
- Pathogenic/Likely pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- AlphaMissense 0.66
- MetaLR 0.89
- MetaSVM 0.81
- PolyPhen-2 0.77
- SIFT 0.11
- EVE 0.10
- ClinVar: Pathogenic/Likely 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)