F57F (p.Phe57Phe) variant of SRSF2 (Q01130)
F57F (p.Phe57Phe) in SRSF2 (Q01130) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and published literature.
F57F (p.Phe57Phe) variant details
- p.Phe57Phe
- rs376379121
- gnomAD 17-76736990-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 16.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available