H40R (p.His40Arg) variant of ABCG2 (Q9UNQ0)
H40R (p.His40Arg) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
H40R (p.His40Arg) variant details
- p.His40Arg
- TOPMed rs1348206890
- gnomAD rs1348206890
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.41
- CADD 23.20
- PolyPhen-2 0.17
- SIFT 0.02
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available