R37Q (p.Arg37Gln) variant of MCM3 (P25205)
R37Q (p.Arg37Gln) in MCM3 (P25205) 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 0.64 / 1. The record also includes population frequency data.
R37Q (p.Arg37Gln) variant details
- p.Arg37Gln
- ESP rs150433204
- TOPMed rs150433204
- gnomAD rs150433204
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.45
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)