C126F (p.Cys126Phe) variant of MCM3 (P25205)
C126F (p.Cys126Phe) 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 0.80 / 1. The record also includes population frequency data and structural context.
C126F (p.Cys126Phe) variant details
- p.Cys126Phe
- rs776136477
- ClinGen CA3855197
- ClinVar RCV004419196
- ExAC rs776136477
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available