R111C (p.Arg111Cys) variant of SLC4A1 (Band 3 anion transport protein)
R111C (p.Arg111Cys) 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; Hereditary spherocytosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R111C (p.Arg111Cys) variant details
- p.Arg111Cys
- rs13306774
- ClinGen CA8600642
- ClinVar RCV002291017
- ClinVar RCV003101250
- Conflicting interpretations
- not provided; Hereditary spherocytosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.56
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary spherocytosis type 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available