T162S (p.Thr162Ser) variant of SF3B1 (Splicing factor 3B subunit 1)
T162S (p.Thr162Ser) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T162S (p.Thr162Ser) variant details
- p.Thr162Ser
- gnomAD rs1340721089
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.08
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available