D592N (p.Asp592Asn) variant of VCP (P55072)
D592N (p.Asp592Asn) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Frontotemporal dementia and/or amyotrophic lateral sclerosis 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
D592N (p.Asp592Asn) variant details
- p.Asp592Asn
- rs387906790
- ClinGen CA128985
- ClinVar RCV000023066
- UniProt VAR 065911
- Pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- AlphaMissense 0.90
- MetaLR 0.87
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.14
- ClinVar: Pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6)
- EBI: Pathogenic (in FTDALS6)
- UniProt: Pathogenic (in FTDALS6)
- Structural context available
- Cited in: Exome sequencing reveals VCP mutations as a cause of familial ALS. (PMID 21145000)
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)