K14E (p.Lys14Glu) variant of ABCB1 (ATP-dependent translocase ABCB1)
K14E (p.Lys14Glu) 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 0.64 / 1. The record also includes population frequency data and structural context.
K14E (p.Lys14Glu) variant details
- p.Lys14Glu
- NCI-TCGA Cosmic COSV9971
- cosmic curated COSV99711
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 14.10
- PolyPhen-2 0.01
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available