N5S (p.Asn5Ser) variant of ABCG2 (Q9UNQ0)
N5S (p.Asn5Ser) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
N5S (p.Asn5Ser) variant details
- p.Asn5Ser
- ESP rs372490271
- TOPMed rs372490271
- gnomAD rs372490271
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.07
- CADD 10.30
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available