K63N (p.Lys63Asn) variant of ABCC2 (Q92887)
K63N (p.Lys63Asn) in ABCC2 (Q92887) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
K63N (p.Lys63Asn) variant details
- p.Lys63Asn
- 1000Genomes rs41286890
- ExAC rs41286890
- TOPMed rs41286890
- gnomAD rs41286890
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 18.80
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available