E53A (p.Glu53Ala) variant of PRMT5 (O14744)
E53A (p.Glu53Ala) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E53A (p.Glu53Ala) variant details
- p.Glu53Ala
- gnomAD rs1333925168
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.34
- CADD 25.70
- PolyPhen-2 0.62
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available