K14N (p.Lys14Asn) variant of ABCB1 (ATP-dependent translocase ABCB1)
K14N (p.Lys14Asn) 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 0.31 / 1. The record also includes population frequency data and structural context.
K14N (p.Lys14Asn) variant details
- p.Lys14Asn
- rs1390637727
- NCI-TCGA Cosmic COSV5594
- cosmic curated COSV55944
- gnomAD rs1390637727
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 2.33
- PolyPhen-2 0.01
- SIFT 0.45
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available