D6H (p.Asp6His) variant of ABCB1 (ATP-dependent translocase ABCB1)
D6H (p.Asp6His) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D6H (p.Asp6His) variant details
- p.Asp6His
- ExAC rs780204251
- gnomAD rs780204251
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 17.30
- PolyPhen-2 0.10
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available