T7S (p.Thr7Ser) variant of SF3B1 (Splicing factor 3B subunit 1)
T7S (p.Thr7Ser) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
T7S (p.Thr7Ser) variant details
- p.Thr7Ser
- 1000Genomes rs190499887
- ExAC rs190499887
- gnomAD rs190499887
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.27
- CADD 25.00
- PolyPhen-2 0.82
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available