A18T (p.Ala18Thr) variant of LDLR (Low-density lipoprotein receptor)
A18T (p.Ala18Thr) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- gnomAD rs1172805138
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available