G12V (p.Gly12Val) variant of SRSF2 (Q01130)
G12V (p.Gly12Val) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and published literature.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- gnomAD 17-76737126-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.62
- CADD 28.10
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Literature evidence available