G51A (p.Gly51Ala) variant of ABCG2 (Q9UNQ0)
G51A (p.Gly51Ala) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G51A (p.Gly51Ala) variant details
- p.Gly51Ala
- TOPMed rs1436625518
- gnomAD rs1436625518
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.57
- CADD 24.40
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available