Y58C (p.Tyr58Cys) variant of SLC4A1 (Band 3 anion transport protein)
Y58C (p.Tyr58Cys) 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; Autosomal dominant distal renal t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Y58C (p.Tyr58Cys) variant details
- p.Tyr58Cys
- rs368863744
- ClinGen CA8600679
- ClinVar RCV000305664
- ClinVar RCV000339556
- Conflicting interpretations
- not provided; Hereditary spherocytosis type 4; Autosomal dominant distal renal t
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.36
- CADD 20.80
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary spherocytosis type 4; Autosomal dominan)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)