V12A (p.Val12Ala) variant of ABCG2 (Q9UNQ0)
V12A (p.Val12Ala) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V12A (p.Val12Ala) variant details
- p.Val12Ala
- ExAC rs779729082
- TOPMed rs779729082
- gnomAD rs779729082
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.16
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available