P188L (p.Pro188Leu) variant of VCP (P55072)
P188L (p.Pro188Leu) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inclusion body myopathy with Paget disease of bone and frontotemporal dementia t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P188L (p.Pro188Leu) variant details
- p.Pro188Leu
- rs1410410076
- ClinGen CA373288731
- ClinVar RCV003994618
- Uncertain significance
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia t
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.76
- CADD 31.00
- PolyPhen-2 0.91
- SIFT 0.03
- ClinVar: Uncertain significance (Inclusion body myopathy with Paget disease of bone and frontotem)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Cited in: Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia. (PMID 20301649)