P6S (p.Pro6Ser) variant of SRSF2 (Q01130)
P6S (p.Pro6Ser) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and published literature.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- gnomAD 17-76737145-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.37
- CADD 24.60
- PolyPhen-2 0.12
- SIFT 0.06
- Population evidence available
- Literature evidence available