Q56R (p.Gln56Arg) variant of PRMT5 (O14744)
Q56R (p.Gln56Arg) in PRMT5 (O14744) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q56R (p.Gln56Arg) variant details
- p.Gln56Arg
- gnomAD 14-22920696-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 7.22
- Population evidence available
- Structural context available
- Literature evidence available