V9A (p.Val9Ala) variant of LAMP2 (P13473)
V9A (p.Val9Ala) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Danon disease.
V9A (p.Val9Ala) variant details
- p.Val9Ala
- Ensembl rs1022817972
- Uncertain significance
- Danon disease
- Missense
- ClinVar: Uncertain significance (Danon disease)
- UniProt: Uncertain significance