E28K (p.Glu28Lys) variant of SLC4A1 (Band 3 anion transport protein)
E28K (p.Glu28Lys) 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; BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP, WALDNER. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- rs55637644
- ClinGen CA8600739
- ClinVar RCV002597087
- ClinVar RCV005008646
- Conflicting interpretations
- not provided; BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP, WALDNER
- Missense
- Variant Prioritization Score for Impact Estimate 0.0961
- REVEL 0.11
- CADD 0.01
- PolyPhen-2 0.01
- SIFT 0.92
- ClinVar: Conflicting classifications of pathogenicity (not provided; BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP, WALDNER)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)