R114W (p.Arg114Trp) variant of MCM3 (P25205)
R114W (p.Arg114Trp) in MCM3 (P25205) 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 0.52 / 1. The record also includes population frequency data.
R114W (p.Arg114Trp) variant details
- p.Arg114Trp
- rs748245826
- ClinGen CA3855207
- ClinVar RCV004248958
- ExAC rs748245826
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 8.3e-05)