Y50L (p.Tyr50Leu) variant of SRSF2 (Q01130)
Y50L (p.Tyr50Leu) in SRSF2 (Q01130) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and published literature.
Y50L (p.Tyr50Leu) variant details
- p.Tyr50Leu
- gnomAD 17-76736991-AAGCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.669
- CADD 33.00
- Population evidence available
- Literature evidence available