S42P (p.Ser42Pro) variant of VCP (P55072)
S42P (p.Ser42Pro) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
S42P (p.Ser42Pro) variant details
- p.Ser42Pro
- rs1238589369
- ClinGen CA373294703
- ClinVar RCV003443515
- TOPMed rs1238589369
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.81
- CADD 25.60
- PolyPhen-2 0.87
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available