I100L (p.Ile100Leu) variant of VCP (P55072)
I100L (p.Ile100Leu) 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 0.61 / 1. The record also includes population frequency data and structural context.
I100L (p.Ile100Leu) variant details
- p.Ile100Leu
- ExAC rs753221407
- gnomAD rs753221407
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.62
- CADD 24.20
- PolyPhen-2 0.14
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available