E81K (p.Glu81Lys) variant of MCM6 (Q14566)
E81K (p.Glu81Lys) 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 0.47 / 1. The record also includes population frequency data and structural context.
E81K (p.Glu81Lys) variant details
- p.Glu81Lys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.24
- CADD 25.00
- PolyPhen-2 0.57
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available