A93S (p.Ala93Ser) variant of SLC4A1 (Band 3 anion transport protein)
A93S (p.Ala93Ser) 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; Southeast Asian ovalocytosis; BLOOD GROUP--SWANN SYSTEM. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
A93S (p.Ala93Ser) variant details
- p.Ala93Ser
- rs145054469
- ClinGen CA8600654
- ClinVar RCV001507388
- ClinVar RCV002567971
- Conflicting interpretations
- not provided; Southeast Asian ovalocytosis; BLOOD GROUP--SWANN SYSTEM
- Missense
- Variant Prioritization Score for Impact Estimate 0.0564
- REVEL 0.04
- CADD 0.85
- PolyPhen-2 0.14
- SIFT 0.68
- ClinVar: Conflicting classifications of pathogenicity (not provided; Southeast Asian ovalocytosis; BLOOD GROUP--SWANN S)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00056)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)