L68A (p.Leu68Ala) variant of TMEM43 (Transmembrane protein 43)
L68A (p.Leu68Ala) in TMEM43 (Transmembrane protein 43) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
L68A (p.Leu68Ala) variant details
- p.Leu68Ala
- rs2470179437
- ClinGen CA913188032
- ClinVar RCV003887821
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available