D28E (p.Asp28Glu) variant of PRMT5 (O14744)
D28E (p.Asp28Glu) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D28E (p.Asp28Glu) variant details
- p.Asp28Glu
- Ensembl rs2044497069
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.13
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.84
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available