F103L (p.Phe103Leu) variant of ABCB1 (ATP-dependent translocase ABCB1)
F103L (p.Phe103Leu) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
F103L (p.Phe103Leu) variant details
- p.Phe103Leu
- Ensembl rs1817984550
- UniProt VAR 015001
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- CADD 1.43
- PolyPhen-2 0.00
- SIFT 0.68
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Cited in: Functional polymorphisms of the human multidrug-resistance gene: multiple sequence variations and correlation of one… (PMID 10716719)