V53L (p.Val53Leu) variant of ABCB1 (ATP-dependent translocase ABCB1)
V53L (p.Val53Leu) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V53L (p.Val53Leu) variant details
- p.Val53Leu
- cosmic curated COSV55950
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- CADD 1.19
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available