Q47K (p.Gln47Lys) variant of ABCC2 (Q92887)
Q47K (p.Gln47Lys) in ABCC2 (Q92887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
Q47K (p.Gln47Lys) variant details
- p.Gln47Lys
- cosmic curated COSV10821
- TOPMed rs1444324174
- gnomAD rs1444324174
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- CADD 20.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available