E131D (p.Glu131Asp) variant of SF3B1 (Splicing factor 3B subunit 1)
E131D (p.Glu131Asp) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The record also includes structural context.
E131D (p.Glu131Asp) variant details
- p.Glu131Asp
- TOPMed rs2085221914
- Missense
- Structural context available