S78C (p.Ser78Cys) variant of VCP (P55072)
S78C (p.Ser78Cys) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
S78C (p.Ser78Cys) variant details
- p.Ser78Cys
- rs1252437282
- ClinGen CA373293873
- ClinVar RCV001927107
- TOPMed rs1252437282
- Uncertain significance
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.62
- CADD 27.90
- PolyPhen-2 0.47
- SIFT 0.01
- ClinVar: Uncertain significance (Inclusion body myopathy with Paget disease of bone and frontotem)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)