D93E (p.Asp93Glu) variant of PRMT5 (O14744)
D93E (p.Asp93Glu) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D93E (p.Asp93Glu) variant details
- p.Asp93Glu
- TOPMed rs1271437549
- gnomAD rs1271437549
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.29
- CADD 23.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available