N139S (p.Asn139Ser) variant of ABCG2 (Q9UNQ0)
N139S (p.Asn139Ser) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
N139S (p.Asn139Ser) variant details
- p.Asn139Ser
- Ensembl rs1724844478
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.43
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available