S100N (p.Ser100Asn) variant of ABCG2 (Q9UNQ0)
S100N (p.Ser100Asn) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
S100N (p.Ser100Asn) variant details
- p.Ser100Asn
- ExAC rs775730528
- TOPMed rs775730528
- gnomAD rs775730528
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.12
- CADD 1.66
- PolyPhen-2 0.01
- SIFT 0.48
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available