S3C (p.Ser3Cys) variant of ABCG2 (Q9UNQ0)
S3C (p.Ser3Cys) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S3C (p.Ser3Cys) variant details
- p.Ser3Cys
- TOPMed rs1725518703
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.29
- CADD 24.20
- PolyPhen-2 0.62
- SIFT 0.02
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available