T98A (p.Thr98Ala) variant of SF3B1 (Splicing factor 3B subunit 1)
T98A (p.Thr98Ala) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
T98A (p.Thr98Ala) variant details
- p.Thr98Ala
- TOPMed rs1221785624
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.09
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.86
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available