N94K (p.Asn94Lys) variant of ABCB1 (ATP-dependent translocase ABCB1)
N94K (p.Asn94Lys) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
N94K (p.Asn94Lys) variant details
- p.Asn94Lys
- 1000Genomes rs528004506
- ExAC rs528004506
- TOPMed rs528004506
- gnomAD rs528004506
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 8.61
- PolyPhen-2 0.10
- SIFT 0.07
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available