L148P (p.Leu148Pro) variant of ABCG2 (Q9UNQ0)
L148P (p.Leu148Pro) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
L148P (p.Leu148Pro) variant details
- p.Leu148Pro
- gnomAD rs1389663757
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.84
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available