R80P (p.Arg80Pro) variant of SLC4A1 (Band 3 anion transport protein)
R80P (p.Arg80Pro) 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; Hereditary spherocytosis type 4; BLOOD GROUP--SWANN SYS. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R80P (p.Arg80Pro) variant details
- p.Arg80Pro
- ExAC rs372860708
- TOPMed rs372860708
- gnomAD rs372860708
- Uncertain significance
- Inborn genetic diseases; Hereditary spherocytosis type 4; BLOOD GROUP--SWANN SYS
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.60
- CADD 17.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Hereditary spherocytosis type 4; BLOOD)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available