Q56* (p.Gln56Ter) variant of PRMT5 (O14744)
Q56* (p.Gln56Ter) in PRMT5 (O14744) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q56* (p.Gln56Ter) variant details
- p.Gln56Ter
- rs983856507
- gnomAD 14-22920698-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.211
- CADD 9.16
- Population evidence available
- Structural context available
- Literature evidence available