G125D (p.Gly125Asp) variant of VCP (P55072)
G125D (p.Gly125Asp) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.73 / 1. The record also includes published literature and structural context.
G125D (p.Gly125Asp) variant details
- p.Gly125Asp
- rs1563980403
- ClinGen CA373292088
- ClinVar RCV001809749
- ClinVar RCV002233201
- Conflicting interpretations
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- AlphaMissense 0.84
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.09
- ClinVar: Conflicting classifications of pathogenicity (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- EBI: Likely pathogenic
- UniProt: Likely 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)