T52I (p.Thr52Ile) variant of MCM5 (P33992)
T52I (p.Thr52Ile) in MCM5 (P33992) 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 0.30 / 1. The record also includes population frequency data and structural context.
T52I (p.Thr52Ile) variant details
- p.Thr52Ile
- rs1932014776
- ClinGen CA411356914
- ClinVar RCV004315865
- TOPMed rs1932014776
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.09
- MetaLR 0.06
- MetaSVM -1.09
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available