K74R (p.Lys74Arg) variant of ACAN (Aggrecan core protein)
K74R (p.Lys74Arg) in ACAN (Aggrecan core protein) 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 0.47 / 1. The record also includes population frequency data and structural context.
K74R (p.Lys74Arg) variant details
- p.Lys74Arg
- NCI-TCGA TCGA novel
- gnomAD rs1896573345
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 25.50
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available