A93S (p.Ala93Ser) variant of MCM6 (Q14566)
A93S (p.Ala93Ser) in MCM6 (Q14566) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A93S (p.Ala93Ser) variant details
- p.Ala93Ser
- ExAC rs746364726
- TOPMed rs746364726
- gnomAD rs746364726
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.18
- CADD 24.70
- PolyPhen-2 0.72
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00062)
- Structural context available