A50S (p.Ala50Ser) variant of MCM6 (Q14566)
A50S (p.Ala50Ser) 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 0.53 / 1. The record also includes population frequency data and structural context.
A50S (p.Ala50Ser) variant details
- p.Ala50Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.35
- CADD 23.70
- PolyPhen-2 0.86
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available