L73Q (p.Leu73Gln) variant of MCM3 (P25205)
L73Q (p.Leu73Gln) 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 0.59 / 1. The record also includes population frequency data and structural context.
L73Q (p.Leu73Gln) variant details
- p.Leu73Gln
- rs1254385710
- ClinGen CA364450752
- ClinVar RCV004169265
- gnomAD rs1254385710
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available