N8S (p.Asn8Ser) variant of ABCB1 (ATP-dependent translocase ABCB1)
N8S (p.Asn8Ser) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
N8S (p.Asn8Ser) variant details
- p.Asn8Ser
- TOPMed rs1373721748
- gnomAD rs1373721748
- Missense
- Variant Prioritization Score for Impact Estimate 0.0708
- CADD 2.57
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available