G122C (p.Gly122Cys) variant of ABCG2 (Q9UNQ0)
G122C (p.Gly122Cys) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
G122C (p.Gly122Cys) variant details
- p.Gly122Cys
- cosmic curated COSV99419
- TOPMed rs1292996300
- gnomAD rs1292996300
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.59
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available