T14I (p.Thr14Ile) variant of VCP (P55072)
T14I (p.Thr14Ile) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
T14I (p.Thr14Ile) variant details
- p.Thr14Ile
- rs1219381953
- ClinGen CA373295294
- ClinVar RCV001095442
- ClinVar RCV001196071
- Uncertain significance
- not specified; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; I
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.67
- AlphaMissense 0.65
- MetaLR 0.75
- MetaSVM 0.52
- CADD 24.70
- PolyPhen-2 0.53
- ClinVar: Uncertain significance (not specified; Frontotemporal dementia and/or amyotrophic latera)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)