T51S (p.Thr51Ser) variant of SRSF2 (Q01130)
T51S (p.Thr51Ser) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and published literature.
T51S (p.Thr51Ser) variant details
- p.Thr51Ser
- gnomAD 17-76737010-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.55
- CADD 24.50
- PolyPhen-2 0.54
- SIFT 0.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available