T29M (p.Thr29Met) variant of SRSF2 (Q01130)
T29M (p.Thr29Met) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
T29M (p.Thr29Met) variant details
- p.Thr29Met
- Ensembl rs2077540071
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.48
- CADD 28.90
- PolyPhen-2 0.58
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)