P137S (p.Pro137Ser) variant of VCP (P55072)
P137S (p.Pro137Ser) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P137S (p.Pro137Ser) variant details
- p.Pro137Ser
- rs866101707
- ClinGen CA192682504
- ClinVar RCV000736269
- TOPMed rs866101707
- Likely pathogenic
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.75
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Likely pathogenic (Alzheimer disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Alzheimer Disease Overview. (PMID 20301340)
- Cited in: EFNS guidelines for the diagnosis and management of Alzheimer's disease. (PMID 20831773)