E108K (p.Glu108Lys) variant of ABCB1 (ATP-dependent translocase ABCB1)
E108K (p.Glu108Lys) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E108K (p.Glu108Lys) variant details
- p.Glu108Lys
- UniProt VAR 018351
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Polymorphism of MDR1 gene in healthy japanese subjects: a novel SNP with an amino acid substitution (Glu108Lys). (PMID 15618700)