E21K (p.Glu21Lys) variant of MCM6 (Q14566)
E21K (p.Glu21Lys) 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 0.48 / 1. The record also includes population frequency data and structural context.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- NCI-TCGA Cosmic COSV5147
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.28
- CADD 23.60
- PolyPhen-2 0.17
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available