K118N (p.Lys118Asn) variant of ABCG2 (Q9UNQ0)
K118N (p.Lys118Asn) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K118N (p.Lys118Asn) variant details
- p.Lys118Asn
- ExAC rs767066657
- gnomAD rs767066657
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.25
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available