L119A (p.Leu119Ala) variant of CLN3 (Battenin)
L119A (p.Leu119Ala) in CLN3 (Battenin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
L119A (p.Leu119Ala) variant details
- p.Leu119Ala
- rs2506494373
- ClinGen CA2580091414
- ClinVar RCV003136476
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available