S69L (p.Ser69Leu) variant of PRMT5 (O14744)
S69L (p.Ser69Leu) 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.
S69L (p.Ser69Leu) variant details
- p.Ser69Leu
- gnomAD 14-22920703-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 13.90
- Population evidence available
- Structural context available
- Literature evidence available