E110Q (p.Glu110Gln) variant of PRMT5 (O14744)
E110Q (p.Glu110Gln) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
E110Q (p.Glu110Gln) variant details
- p.Glu110Gln
- TOPMed rs1433171038
- gnomAD rs1433171038
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.43
- CADD 25.70
- PolyPhen-2 0.74
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available