S2I (p.Ser2Ile) variant of SRSF2 (Q01130)
S2I (p.Ser2Ile) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and published literature.
S2I (p.Ser2Ile) variant details
- p.Ser2Ile
- gnomAD 17-76737156-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.29
- CADD 26.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Literature evidence available