E53E (p.Glu53Glu) variant of SRSF2 (Q01130)
E53E (p.Glu53Glu) in SRSF2 (Q01130) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and published literature.
E53E (p.Glu53Glu) variant details
- p.Glu53Glu
- gnomAD 17-76737002-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 15.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Literature evidence available