R155H (p.Arg155His) variant of VCP (P55072)
R155H (p.Arg155His) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R155H (p.Arg155His) variant details
- p.Arg155His
- rs121909329
- ClinGen CA128983
- ClinVar RCV000008989
- ClinVar RCV000523065
- Pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.73
- AlphaMissense 0.97
- MetaLR 0.91
- MetaSVM 0.98
- CADD 23.20
- PolyPhen-2 0.95
- ClinVar: Pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- EBI: Pathogenic (in FTDALS6 and IBMPFD1)
- UniProt: Pathogenic (in FTDALS6 and IBMPFD1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant… (PMID 15034582)
- Cited in: Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation. (PMID 16321991)