N44H (p.Asn44His) variant of ABCB1 (ATP-dependent translocase ABCB1)
N44H (p.Asn44His) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
N44H (p.Asn44His) variant details
- p.Asn44His
- ExAC rs774528779
- TOPMed rs774528779
- gnomAD rs774528779
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- CADD 20.00
- PolyPhen-2 0.71
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available