V124L (p.Val124Leu) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
V124L (p.Val124Leu) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes population frequency data and structural context.
V124L (p.Val124Leu) variant details
- p.Val124Leu
- 1000Genomes rs566685003
- ExAC rs566685003
- TOPMed rs566685003
- gnomAD rs566685003
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available