R143C (p.Arg143Cys) variant of MCM3 (P25205)
R143C (p.Arg143Cys) 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 0.75 / 1. The record also includes population frequency data.
R143C (p.Arg143Cys) variant details
- p.Arg143Cys
- 1000Genomes rs185309475
- ExAC rs185309475
- TOPMed rs185309475
- gnomAD rs185309475
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- CADD 26.30
- PolyPhen-2 0.08
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.016)