E12K (p.Glu12Lys) variant of SF3B1 (Splicing factor 3B subunit 1)
E12K (p.Glu12Lys) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The record also includes structural context.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- Ensembl rs2106015599
- Missense
- Structural context available