S69Q (p.Ser69Gln) variant of PRMT5 (O14744)
S69Q (p.Ser69Gln) in PRMT5 (O14744) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S69Q (p.Ser69Gln) variant details
- p.Ser69Gln
- rs1566627550
- gnomAD 14-22920704-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 6.98
- Population evidence available
- Structural context available
- Literature evidence available