I175T (p.Ile175Thr) variant of VCP (P55072)
I175T (p.Ile175Thr) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of VCP-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
I175T (p.Ile175Thr) variant details
- p.Ile175Thr
- Ensembl rs1828805958
- Uncertain significance
- VCP-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.89
- CADD 27.40
- ClinVar: Uncertain significance (VCP-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available