A82V (p.Ala82Val) variant of ABCB1 (ATP-dependent translocase ABCB1)
A82V (p.Ala82Val) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
A82V (p.Ala82Val) variant details
- p.Ala82Val
- gnomAD rs1201503261
- Missense
- Variant Prioritization Score for Impact Estimate 0.0646
- CADD 0.26
- PolyPhen-2 0.01
- SIFT 0.49
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available