R155S (p.Arg155Ser) variant of VCP (P55072)
R155S (p.Arg155Ser) 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 0.76 / 1. The record also includes published literature and structural context.
R155S (p.Arg155Ser) variant details
- p.Arg155Ser
- rs121909330
- ClinGen CA373289661
- ClinVar RCV001949225
- UniProt VAR 076466
- Pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- AlphaMissense 0.95
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.17
- ClinVar: Pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- EBI: Pathogenic (in IBMPFD1)
- UniProt: Pathogenic (in IBMPFD1)
- Structural context available
- Cited in: VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations… (PMID 20104022)
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)