I175V (p.Ile175Val) variant of VCP (P55072)
I175V (p.Ile175Val) 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 0.53 / 1. The record also includes published literature and structural context.
I175V (p.Ile175Val) variant details
- p.Ile175Val
- rs1828806031
- ClinGen CA373289133
- ClinVar RCV001212543
- Ensembl rs1828806031
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- AlphaMissense 0.35
- MetaLR 0.74
- MetaSVM 0.27
- PolyPhen-2 0.00
- SIFT 0.23
- EVE 0.10
- 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)