V124L (p.Val124Leu) variant of ABCG2 (Q9UNQ0)
V124L (p.Val124Leu) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
V124L (p.Val124Leu) variant details
- p.Val124Leu
- ExAC rs774024199
- TOPMed rs774024199
- gnomAD rs774024199
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.88
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available