G720V (p.Gly720Val) variant of SLC4A1 (Band 3 anion transport protein)
G720V (p.Gly720Val) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary spherocytosis type 4. The record also includes structural context.
G720V (p.Gly720Val) variant details
- p.Gly720Val
- rs2509960998
- ClinGen CA399781690
- ClinVar RCV002291021
- Likely pathogenic
- Hereditary spherocytosis type 4
- Missense
- ClinVar: Likely pathogenic (Hereditary spherocytosis type 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available