R41H (p.Arg41His) variant of ABCB1 (ATP-dependent translocase ABCB1)
R41H (p.Arg41His) 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 0.71 / 1. The record also includes population frequency data and structural context.
R41H (p.Arg41His) variant details
- p.Arg41His
- rs199551851
- NCI-TCGA Cosmic COSV5594
- cosmic curated COSV55945
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available