I189V (p.Ile189Val) variant of VCP (P55072)
I189V (p.Ile189Val) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; In. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
I189V (p.Ile189Val) variant details
- p.Ile189Val
- rs747754993
- ClinGen CA5039446
- ClinVar RCV003100354
- ClinVar RCV004697252
- Uncertain significance
- not provided; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; In
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.31
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.94
- ClinVar: Uncertain significance (not provided; Frontotemporal dementia and/or amyotrophic lateral)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)