P6A (p.Pro6Ala) variant of SRSF2 (Q01130)
P6A (p.Pro6Ala) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and published literature.
P6A (p.Pro6Ala) variant details
- p.Pro6Ala
- gnomAD 17-76737145-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.29
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.26
- Population evidence available
- Literature evidence available