Q56L (p.Gln56Leu) variant of PRMT5 (O14744)
Q56L (p.Gln56Leu) in PRMT5 (O14744) is a missense 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.
Q56L (p.Gln56Leu) variant details
- p.Gln56Leu
- rs1452269481
- gnomAD 14-22920718-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 16.10
- Population evidence available
- Structural context available
- Literature evidence available