S5L (p.Ser5Leu) variant of ABCG5 (Q9H222)
S5L (p.Ser5Leu) 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 variant effect predictions and structural context.
S5L (p.Ser5Leu) variant details
- p.Ser5Leu
- Ensembl rs1668439625
- Uncertain significance
- Sitosterolemia 2
- Missense
- SIFT 0.51
- ClinVar: Uncertain significance (Sitosterolemia 2)
- UniProt: Uncertain significance
- Structural context available