K108N (p.Lys108Asn) variant of MCM6 (Q14566)
K108N (p.Lys108Asn) in MCM6 (Q14566) 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 0.37 / 1. The record also includes population frequency data and structural context.
K108N (p.Lys108Asn) variant details
- p.Lys108Asn
- 1000Genomes rs553009731
- ExAC rs553009731
- gnomAD rs553009731
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.27
- CADD 25.00
- PolyPhen-2 0.90
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available