I126S (p.Ile126Ser) variant of VCP (P55072)
I126S (p.Ile126Ser) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
I126S (p.Ile126Ser) variant details
- p.Ile126Ser
- rs1828841085
- ClinGen CA373292055
- ClinVar RCV001212180
- Ensembl rs1828841085
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 0.96
- PolyPhen-2 0.90
- SIFT 0.03
- EVE 0.12
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- EBI: Variant of uncertain significance (in IBMPFD1)
- UniProt: Uncertain significance (in IBMPFD1)
- 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)