P6H (p.Pro6His) variant of SRSF2 (Q01130)
P6H (p.Pro6His) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and published literature.
P6H (p.Pro6His) variant details
- p.Pro6His
- gnomAD 17-76737144-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.55
- CADD 31.00
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Literature evidence available