K48N (p.Lys48Asn) variant of ABCB1 (ATP-dependent translocase ABCB1)
K48N (p.Lys48Asn) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
K48N (p.Lys48Asn) variant details
- p.Lys48Asn
- 1000Genomes rs139583955
- ExAC rs139583955
- TOPMed rs139583955
- gnomAD rs139583955
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- CADD 24.70
- PolyPhen-2 0.58
- SIFT 0.14
- Most common in the HGDP:SHE population (allele frequency 0.056)
- Structural context available