V100L (p.Val100Leu) variant of MCM3 (P25205)
V100L (p.Val100Leu) 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 0.20 / 1. The record also includes population frequency data and structural context.
V100L (p.Val100Leu) variant details
- p.Val100Leu
- rs146219216
- ClinGen CA3855219
- ClinVar RCV004345440
- 1000Genomes rs146219216
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available