E26K (p.Glu26Lys) variant of ABCG5 (Q9H222)
E26K (p.Glu26Lys) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Sitosterolemia 2. The record also includes structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- cosmic curated COSV53211
- Uncertain significance
- Sitosterolemia 2
- Missense
- ClinVar: Uncertain significance (Sitosterolemia 2)
- UniProt: Uncertain significance
- Structural context available