S50N (p.Ser50Asn) variant of ABCG2 (Q9UNQ0)
S50N (p.Ser50Asn) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S50N (p.Ser50Asn) variant details
- p.Ser50Asn
- TOPMed rs1725502407
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.21
- CADD 19.30
- PolyPhen-2 0.05
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available