V154I (p.Val154Ile) variant of VCP (P55072)
V154I (p.Val154Ile) in VCP (P55072) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
V154I (p.Val154Ile) variant details
- p.Val154Ile
- gnomAD rs1587127201
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.47
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.08
- CADD 22.00
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available