V45E (p.Val45Glu) variant of PRMT5 (O14744)
V45E (p.Val45Glu) in PRMT5 (O14744) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V45E (p.Val45Glu) variant details
- p.Val45Glu
- gnomAD 14-22920689-TCA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.51
- CADD 5.75
- Population evidence available
- Structural context available
- Literature evidence available