C119Y (p.Cys119Tyr) variant of ABCG2 (Q9UNQ0)
C119Y (p.Cys119Tyr) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
C119Y (p.Cys119Tyr) variant details
- p.Cys119Tyr
- gnomAD rs1330286500
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.69
- CADD 25.20
- PolyPhen-2 0.83
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available