R138C (p.Arg138Cys) variant of MCM3 (P25205)
R138C (p.Arg138Cys) 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 0.74 / 1. The record also includes population frequency data.
R138C (p.Arg138Cys) variant details
- p.Arg138Cys
- rs371347878
- cosmic curated COSV57717
- ESP rs371347878
- ExAC rs371347878
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)