L102P (p.Leu102Pro) variant of MCM3 (P25205)
L102P (p.Leu102Pro) 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 0.67 / 1. The record also includes population frequency data and structural context.
L102P (p.Leu102Pro) variant details
- p.Leu102Pro
- rs1459531760
- ClinGen CA364450576
- ClinVar RCV004123529
- TOPMed rs1459531760
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 29.30
- PolyPhen-2 0.91
- 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 5.4e-06)
- Structural context available