E129G (p.Glu129Gly) variant of PRMT5 (O14744)
E129G (p.Glu129Gly) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E129G (p.Glu129Gly) variant details
- p.Glu129Gly
- TOPMed rs1459704486
- gnomAD rs1459704486
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.10
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available