H40L (p.His40Leu) variant of ABCG2 (Q9UNQ0)
H40L (p.His40Leu) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
H40L (p.His40Leu) variant details
- p.His40Leu
- TOPMed rs1348206890
- gnomAD rs1348206890
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.56
- CADD 25.70
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available