P6L (p.Pro6Leu) variant of SRSF2 (Q01130)
P6L (p.Pro6Leu) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and published literature.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- gnomAD 17-76737144-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.50
- CADD 31.00
- PolyPhen-2 0.55
- SIFT 0.01
- Population evidence available
- Literature evidence available