D705E (p.Asp705Glu) variant of SLC4A1 (Band 3 anion transport protein)
D705E (p.Asp705Glu) 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 Cryohydrocytosis. The record also includes structural context.
D705E (p.Asp705Glu) variant details
- p.Asp705Glu
- rs1185330478
- ClinGen CA399781777
- ClinVar RCV003991816
- Likely pathogenic
- Cryohydrocytosis
- Missense
- ClinVar: Likely pathogenic (Cryohydrocytosis)
- EBI: Likely pathogenic (in SPH4)
- UniProt: Likely pathogenic (in SPH4)
- Structural context available