C77F (p.Cys77Phe) variant of VCP (P55072)
C77F (p.Cys77Phe) 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 0.77 / 1. The record also includes population frequency data and structural context.
C77F (p.Cys77Phe) variant details
- p.Cys77Phe
- rs754802166
- ClinGen CA373293910
- ClinVar RCV003231998
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.77
- CADD 24.50
- PolyPhen-2 0.85
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available