N21Y (p.Asn21Tyr) variant of ABCB1 (ATP-dependent translocase ABCB1)
N21Y (p.Asn21Tyr) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
N21Y (p.Asn21Tyr) variant details
- p.Asn21Tyr
- 1000Genomes rs9282564
- ESP rs9282564
- ExAC rs9282564
- TOPMed rs9282564
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- CADD 9.59
- PolyPhen-2 0.01
- SIFT 0.04
- EBI: Likely benign (in dbSNP:rs9282564)
- UniProt: Likely benign (in dbSNP:rs9282564)
- Population evidence available
- Structural context available