R96C (p.Arg96Cys) variant of SLC4A1 (Band 3 anion transport protein)
R96C (p.Arg96Cys) 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 Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; BLOOD GROUP, WALDNER. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R96C (p.Arg96Cys) variant details
- p.Arg96Cys
- rs538778224
- ClinGen CA8600651
- cosmic curated COSV10805
- ClinVar RCV000275834
- Conflicting interpretations
- Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; BLOOD GROUP, WALDNER
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.34
- CADD 25.00
- PolyPhen-2 0.89
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; BLOO)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)