Y4H (p.Tyr4His) variant of SLC22A5 (O76082)
Y4H (p.Tyr4His) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Carnitine deficiency. The record also includes structural context.
Y4H (p.Tyr4His) variant details
- p.Tyr4His
- Ensembl rs1751822240
- Uncertain significance
- Carnitine deficiency
- Missense
- ClinVar: Uncertain significance (Carnitine deficiency)
- UniProt: Uncertain significance
- Structural context available