Y147D (p.Tyr147Asp) variant of MCM3 (P25205)
Y147D (p.Tyr147Asp) 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 0.68 / 1. The record also includes population frequency data.
Y147D (p.Tyr147Asp) variant details
- p.Tyr147Asp
- rs762077566
- ClinGen CA3855152
- ClinVar RCV004419197
- ExAC rs762077566
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 31.00
- PolyPhen-2 0.99
- 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 9e-07)