D2N (p.Asp2Asn) variant of ABCB1 (ATP-dependent translocase ABCB1)
D2N (p.Asp2Asn) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
D2N (p.Asp2Asn) variant details
- p.Asp2Asn
- gnomAD rs1320562631
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- CADD 23.50
- PolyPhen-2 0.32
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available