R7C (p.Arg7Cys) variant of ABCB1 (ATP-dependent translocase ABCB1)
R7C (p.Arg7Cys) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R7C (p.Arg7Cys) variant details
- p.Arg7Cys
- rs758755760
- cosmic curated COSV10455
- ExAC rs758755760
- TOPMed rs758755760
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- CADD 13.90
- PolyPhen-2 0.18
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available