R47P (p.Arg47Pro) variant of SRSF2 (Q01130)
R47P (p.Arg47Pro) in SRSF2 (Q01130) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and published literature.
R47P (p.Arg47Pro) variant details
- p.Arg47Pro
- gnomAD 17-76737017-GTCCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.473
- CADD 33.00
- Population evidence available
- Literature evidence available