P27L (p.Pro27Leu) variant of SRSF2 (Q01130)
P27L (p.Pro27Leu) in SRSF2 (Q01130) is a missense 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.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- gnomAD 17-76737081-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.64
- CADD 24.20
- PolyPhen-2 0.18
- SIFT 0.01
- Population evidence available
- Literature evidence available