V53G (p.Val53Gly) variant of ABCB1 (ATP-dependent translocase ABCB1)
V53G (p.Val53Gly) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
V53G (p.Val53Gly) variant details
- p.Val53Gly
- cosmic curated COSV10810
- Ensembl rs372174859
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 24.50
- PolyPhen-2 0.40
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available