T39I (p.Thr39Ile) variant of MCM2 (P49736)
T39I (p.Thr39Ile) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
T39I (p.Thr39Ile) variant details
- p.Thr39Ile
- rs745488384
- ClinGen CA2595475
- ClinVar RCV001906978
- ClinVar RCV004042719
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.18
- MetaLR 0.08
- MetaSVM -1.08
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00016)
- Structural context available