L441R (p.Leu441Arg) variant of SLC4A1 (Band 3 anion transport protein)
L441R (p.Leu441Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
L441R (p.Leu441Arg) variant details
- p.Leu441Arg
- rs1555596165
- ClinGen CA399787649
- ClinVar RCV000655904
- Ensembl rs1555596165
- Likely pathogenic
- Hereditary spherocytosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- MutPred 0.94
- ClinVar: Likely pathogenic (Hereditary spherocytosis type 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available