V34I (p.Val34Ile) variant of ABCB1 (ATP-dependent translocase ABCB1)
V34I (p.Val34Ile) 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 0.70 / 1. The record also includes population frequency data and structural context.
V34I (p.Val34Ile) variant details
- p.Val34Ile
- rs533117495
- NCI-TCGA Cosmic COSV5594
- cosmic curated COSV55946
- 1000Genomes rs533117495
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.26
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available