V9L (p.Val9Leu) variant of CASQ2 (Calsequestrin-2)
V9L (p.Val9Leu) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
V9L (p.Val9Leu) variant details
- p.Val9Leu
- rs2526106708
- ClinVar RCV004592010
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available