E90K (p.Glu90Lys) variant of SLC4A1 (Band 3 anion transport protein)
E90K (p.Glu90Lys) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary spherocytosis type 4; Cryohydrocytosis; Autosomal dominant distal ren. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E90K (p.Glu90Lys) variant details
- p.Glu90Lys
- rs28929480
- ClinGen CA127402
- NCI-TCGA Cosmic COSV5225
- cosmic curated COSV52259
- Conflicting interpretations
- Hereditary spherocytosis type 4; Cryohydrocytosis; Autosomal dominant distal ren
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.38
- CADD 8.24
- PolyPhen-2 0.03
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Hereditary spherocytosis type 4; Cryohydrocytosis; Autosomal dom)
- EBI: Pathogenic (in SPH4)
- UniProt: Pathogenic (in SPH4)
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- Cited in: Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III. (PMID 11380459)
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)