I216M (p.Ile216Met) variant of VCP (P55072)
I216M (p.Ile216Met) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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.
I216M (p.Ile216Met) variant details
- p.Ile216Met
- rs1828783140
- ClinGen CA373286752
- ClinVar RCV001038094
- ClinVar RCV002463580
- Likely pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- AlphaMissense 0.75
- MetaLR 0.89
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.21
- ClinVar: Likely pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)