E185K (p.Glu185Lys) variant of VCP (P55072)
E185K (p.Glu185Lys) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E185K (p.Glu185Lys) variant details
- p.Glu185Lys
- rs864309501
- ClinGen CA213386
- ClinVar RCV000202444
- ClinVar RCV002229147
- Likely pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.92
- CADD 25.00
- PolyPhen-2 0.81
- SIFT 0.15
- ClinVar: Likely pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- EBI: Pathogenic (in CMT2Y)
- UniProt: Pathogenic (in CMT2Y)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. (PMID 25125609)
- Cited in: Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation. (PMID 25878907)