E72D (p.Glu72Asp) variant of SLC4A1 (Band 3 anion transport protein)
E72D (p.Glu72Asp) 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 Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; BLOOD GROUP, WALDNER. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E72D (p.Glu72Asp) variant details
- p.Glu72Asp
- rs13306788
- ClinGen CA8600667
- ClinVar RCV000294205
- ClinVar RCV000346820
- Benign/Likely benign
- Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; BLOOD GROUP, WALDNER
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.37
- CADD 9.48
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Benign/Likely benign (Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; BLOO)
- EBI: Benign (in dbSNP:rs13306788)
- UniProt: Benign (in dbSNP:rs13306788)
- Most common in the HGDP:SHE population (allele frequency 0.17)
- Structural context available
- Cited in: Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. (PMID 10745622)
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)