K56E (p.Lys56Glu) variant of SLC4A1 (Band 3 anion transport protein)
K56E (p.Lys56Glu) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; not specified; Hereditary spherocytosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
K56E (p.Lys56Glu) variant details
- p.Lys56Glu
- rs5036
- ClinGen CA210832
- cosmic curated COSV52259
- ClinVar RCV000019328
- Benign/Likely benign
- not provided; not specified; Hereditary spherocytosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.08
- CADD 5.54
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign/Likely benign (not provided; not specified; Hereditary spherocytosis type 4)
- EBI: Pathogenic (in Di(a)/Memphis-II antigen)
- UniProt: Pathogenic (in Di(a)/Memphis-II antigen)
- Most common in the HGDP:DAUR population (allele frequency 0.33)
- Structural context available
- Cited in: Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. (PMID 10745622)
- Cited in: Band 3-Memphis is associated with a lower transport rate of phosphoenolpyruvate. (PMID 1419785)