L136P (p.Leu136Pro) variant of MCM3 (P25205)
L136P (p.Leu136Pro) 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.
L136P (p.Leu136Pro) variant details
- p.Leu136Pro
- rs1265196507
- ClinGen CA364450357
- ClinVar RCV004265599
- gnomAD rs1265196507
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)