G128A (p.Gly128Ala) variant of VCP (P55072)
G128A (p.Gly128Ala) 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 0.74 / 1. The record also includes published literature and structural context.
G128A (p.Gly128Ala) variant details
- p.Gly128Ala
- rs1554668979
- ClinGen CA373291969
- ClinVar RCV000498690
- ClinVar RCV003766796
- Conflicting interpretations
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- AlphaMissense 0.93
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.09
- ClinVar: Conflicting classifications of pathogenicity (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)