N12N (p.Asn12Asn) variant of ABCC2 (Q92887)
N12N (p.Asn12Asn) in ABCC2 (Q92887) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
N12N (p.Asn12Asn) variant details
- p.Asn12Asn
- rs1400448508
- gnomAD 10-99784610-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.438
- CADD 9.37
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Literature evidence available