K12N (p.Lys12Asn) variant of ABCB1 (ATP-dependent translocase ABCB1)
K12N (p.Lys12Asn) 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 0.24 / 1. The record also includes population frequency data and structural context.
K12N (p.Lys12Asn) variant details
- p.Lys12Asn
- NCI-TCGA Cosmic COSV9971
- cosmic curated COSV99712
- gnomAD rs1430496324
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- CADD 10.80
- PolyPhen-2 0.01
- SIFT 0.36
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available