Y44H (p.Tyr44His) variant of ABCG2 (Q9UNQ0)
Y44H (p.Tyr44His) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
Y44H (p.Tyr44His) variant details
- p.Tyr44His
- TOPMed rs1439504107
- gnomAD rs1439504107
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.74
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available