M39V (p.Met39Val) variant of ABCB1 (ATP-dependent translocase ABCB1)
M39V (p.Met39Val) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
M39V (p.Met39Val) variant details
- p.Met39Val
- TOPMed rs201917713
- gnomAD rs201917713
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available