V53L (p.Val53Leu) variant of HFE (Q30201)
V53L (p.Val53Leu) in HFE (Q30201) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
V53L (p.Val53Leu) variant details
- p.Val53Leu
- 1000Genomes rs28934889
- ESP rs28934889
- ExAC rs28934889
- TOPMed rs28934889
- Benign
- Missense
- EBI: Benign (in dbSNP:rs28934889)
- UniProt: Benign (in dbSNP:rs28934889)
- Structural context available