N44D (p.Asn44Asp) variant of ABCB1 (ATP-dependent translocase ABCB1)
N44D (p.Asn44Asp) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
N44D (p.Asn44Asp) variant details
- p.Asn44Asp
- rs774528779
- ExAC rs774528779
- TOPMed rs774528779
- gnomAD rs774528779
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- CADD 6.11
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact. (in dbSNP:rs1202183)
- Population evidence available
- Structural context available