T127I (p.Thr127Ile) variant of VCP (P55072)
T127I (p.Thr127Ile) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m. The record also includes published literature and structural context.
T127I (p.Thr127Ile) variant details
- p.Thr127Ile
- rs2490370348
- ClinGen CA373292001
- ClinVar RCV002304637
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- ClinVar: Uncertain significance (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)