E34K (p.Glu34Lys) variant of ABCG5 (Q9H222)
E34K (p.Glu34Lys) in ABCG5 (Q9H222) is a missense change. The record also includes structural context.
E34K (p.Glu34Lys) variant details
- p.Glu34Lys
- cosmic curated COSV10502
- Ensembl rs980942112
- Missense
- Structural context available