V18L (p.Val18Leu) variant of SRSF2 (Q01130)
V18L (p.Val18Leu) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
V18L (p.Val18Leu) variant details
- p.Val18Leu
- TOPMed rs1237040767
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.47
- CADD 27.10
- PolyPhen-2 0.77
- SIFT 0.02
- Population evidence available