E35G (p.Glu35Gly) variant of SRSF2 (Q01130)
E35G (p.Glu35Gly) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and published literature.
E35G (p.Glu35Gly) variant details
- p.Glu35Gly
- gnomAD 17-76737057-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.42
- CADD 32.00
- PolyPhen-2 0.52
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available