R143Q (p.Arg143Gln) variant of MCM6 (Q14566)
R143Q (p.Arg143Gln) 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 0.62 / 1. The record also includes population frequency data and structural context.
R143Q (p.Arg143Gln) variant details
- p.Arg143Gln
- TOPMed rs924347913
- gnomAD rs924347913
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.48
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available