V88I (p.Val88Ile) variant of VCP (P55072)
V88I (p.Val88Ile) in VCP (P55072) is a missense change. Clinical records from ClinVar 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 0.50 / 1. The record also includes population frequency data and structural context.
V88I (p.Val88Ile) variant details
- p.Val88Ile
- Ensembl rs1828865391
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.35
- AlphaMissense 0.16
- MetaLR 0.62
- MetaSVM 0.02
- CADD 21.70
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available