I78N (p.Ile78Asn) variant of ABCB1 (ATP-dependent translocase ABCB1)
I78N (p.Ile78Asn) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
I78N (p.Ile78Asn) variant details
- p.Ile78Asn
- 1000Genomes rs202150907
- ESP rs202150907
- ExAC rs202150907
- TOPMed rs202150907
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- CADD 8.90
- PolyPhen-2 0.04
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available