Y99C (p.Tyr99Cys) variant of MCM3 (P25205)
Y99C (p.Tyr99Cys) 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 0.66 / 1. The record also includes population frequency data and structural context.
Y99C (p.Tyr99Cys) variant details
- p.Tyr99Cys
- 1000Genomes rs142196279
- ESP rs142196279
- ExAC rs142196279
- TOPMed rs142196279
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- CADD 28.40
- PolyPhen-2 0.76
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0098)
- Structural context available