V71I (p.Val71Ile) variant of VCP (P55072)
V71I (p.Val71Ile) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
V71I (p.Val71Ile) variant details
- p.Val71Ile
- rs748091463
- ClinGen CA5039531
- NCI-TCGA Cosmic COSV6272
- ClinVar RCV003066759
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.37
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-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)