A6S (p.Ala6Ser) variant of MCM6 (Q14566)
A6S (p.Ala6Ser) in MCM6 (Q14566) is a missense change. Clinical records from ClinVar, EBI, 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 0.13 / 1. The record also includes population frequency data and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- rs754786359
- ClinGen CA1889402
- ClinVar RCV004192180
- ExAC rs754786359
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.03
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00088)
- Structural context available