E68K (p.Glu68Lys) variant of SLC4A1 (Band 3 anion transport protein)
E68K (p.Glu68Lys) 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 not provided; Hereditary spherocytosis type 4; Autosomal dominant distal renal t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
E68K (p.Glu68Lys) variant details
- p.Glu68Lys
- rs13306787
- ClinGen CA8600670
- cosmic curated COSV52262
- ClinVar RCV000288475
- Conflicting interpretations
- not provided; Hereditary spherocytosis type 4; Autosomal dominant distal renal t
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.08
- CADD 16.40
- PolyPhen-2 0.08
- SIFT 0.38
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary spherocytosis type 4; Autosomal dominan)
- EBI: Pathogenic (in dbSNP:rs13306787)
- UniProt: Pathogenic (in dbSNP:rs13306787)
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)