P23L (p.Pro23Leu) variant of MCM2 (P49736)
P23L (p.Pro23Leu) in MCM2 (P49736) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- rs2074288488
- ClinGen CA354380356
- ClinVar RCV003720578
- TOPMed rs2074288488
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.07
- MetaLR 0.06
- MetaSVM -1.04
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available