R55S (p.Arg55Ser) variant of MCM6 (Q14566)
R55S (p.Arg55Ser) 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 0.43 / 1. The record also includes population frequency data and structural context.
R55S (p.Arg55Ser) variant details
- p.Arg55Ser
- rs139460893
- ClinGen CA1889361
- ClinVar RCV004108475
- ESP rs139460893
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.21
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.38
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0043)
- Structural context available