D9M (p.Asp9Met) variant of SRSF2 (Q01130)
D9M (p.Asp9Met) in SRSF2 (Q01130) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and published literature.
D9M (p.Asp9Met) variant details
- p.Asp9Met
- gnomAD 17-76737136-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 29.50
- Population evidence available
- Literature evidence available