D42G (p.Asp42Gly) variant of MCM3 (P25205)
D42G (p.Asp42Gly) 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 0.62 / 1. The record also includes population frequency data.
D42G (p.Asp42Gly) variant details
- p.Asp42Gly
- TOPMed rs1766320801
- gnomAD rs1766320801
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 24.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)