S69G (p.Ser69Gly) variant of PRMT5 (O14744)
S69G (p.Ser69Gly) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S69G (p.Ser69Gly) variant details
- p.Ser69Gly
- rs752314923
- gnomAD 14-22920725-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.46
- Most common in the REMAINING population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available