E48K (p.Glu48Lys) variant of VCP (P55072)
E48K (p.Glu48Lys) in VCP (P55072) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- gnomAD 9-35057210-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- CADD 9.66
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available