A58T (p.Ala58Thr) variant of SRSF2 (Q01130)
A58T (p.Ala58Thr) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and published literature.
A58T (p.Ala58Thr) variant details
- p.Ala58Thr
- gnomAD 17-76736989-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.91
- CADD 26.40
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Literature evidence available