N8K (p.Asn8Lys) variant of ABCB1 (ATP-dependent translocase ABCB1)
N8K (p.Asn8Lys) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
N8K (p.Asn8Lys) variant details
- p.Asn8Lys
- NCI-TCGA TCGA novel
- ESP rs146259092
- ExAC rs146259092
- TOPMed rs146259092
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available