K29R (p.Lys29Arg) variant of ABCG2 (Q9UNQ0)
K29R (p.Lys29Arg) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
K29R (p.Lys29Arg) variant details
- p.Lys29Arg
- TOPMed rs1196892045
- gnomAD rs1196892045
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.11
- CADD 9.25
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available