I45I (p.Ile45Ile) variant of SRSF2 (Q01130)
I45I (p.Ile45Ile) in SRSF2 (Q01130) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and published literature.
I45I (p.Ile45Ile) variant details
- p.Ile45Ile
- rs1269318968
- gnomAD 17-76737026-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 15.60
- Most common in the East Asian population (allele frequency 2.5e-05)
- Literature evidence available