E40K (p.Glu40Lys) variant of SLC4A1 (Band 3 anion transport protein)
E40K (p.Glu40Lys) 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 Distal renal tubular acidosis; Cryohydrocytosis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- rs45562031
- ClinGen CA127375
- ClinVar RCV000019333
- ClinVar RCV000298897
- Conflicting interpretations
- Distal renal tubular acidosis; Cryohydrocytosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.21
- CADD 13.30
- PolyPhen-2 0.01
- SIFT 0.45
- ClinVar: Conflicting classifications of pathogenicity (Distal renal tubular acidosis; Cryohydrocytosis; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Amish population (allele frequency 0.11)
- Structural context available
- Cited in: Human erythrocyte protein 4.2 deficiency associated with hemolytic anemia and a homozygous 40glutamic acid-->lysine… (PMID 8471774)
- Cited in: Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. (PMID 8640229)