L73M (p.Leu73Met) variant of SLC4A1 (Band 3 anion transport protein)
L73M (p.Leu73Met) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spherocytosis type 4; BLOOD GROUP--FROESE; BLOOD GROUP, WALDNER. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L73M (p.Leu73Met) variant details
- p.Leu73Met
- rs781490287
- ClinGen CA8600666
- ClinVar RCV003491513
- ClinVar RCV005022003
- Uncertain significance
- Hereditary spherocytosis type 4; BLOOD GROUP--FROESE; BLOOD GROUP, WALDNER
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.46
- CADD 11.00
- PolyPhen-2 0.01
- SIFT 0.44
- ClinVar: Uncertain significance (Hereditary spherocytosis type 4; BLOOD GROUP--FROESE; BLOOD GROU)
- EBI: Variant of uncertain significance (in dbSNP:rs781490287)
- UniProt: Uncertain significance (in dbSNP:rs781490287)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3… (PMID 9012689)
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)