R96H (p.Arg96His) variant of SLC4A1 (Band 3 anion transport protein)
R96H (p.Arg96His) 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 Inborn genetic diseases; Cryohydrocytosis; Hereditary spherocytosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R96H (p.Arg96His) variant details
- p.Arg96His
- rs141244582
- ClinGen CA8600650
- cosmic curated COSV52263
- ClinVar RCV002678986
- Uncertain significance
- Inborn genetic diseases; Cryohydrocytosis; Hereditary spherocytosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.11
- CADD 19.00
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; Cryohydrocytosis; Hereditary spherocyto)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- 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)