S69P (p.Ser69Pro) variant of PRMT5 (O14744)
S69P (p.Ser69Pro) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S69P (p.Ser69Pro) variant details
- p.Ser69Pro
- rs1206074242
- gnomAD 14-22920704-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- CADD 14.30
- Population evidence available
- Structural context available
- Literature evidence available