D28N (p.Asp28Asn) variant of ABCC1 (P33527)
D28N (p.Asp28Asn) in ABCC1 (P33527) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D28N (p.Asp28Asn) variant details
- p.Asp28Asn
- TOPMed rs1036468233
- gnomAD rs1036468233
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.38
- CADD 28.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available