T466I (p.Thr466Ile) variant of MCM5 (P33992)
T466I (p.Thr466Ile) in MCM5 (P33992) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Meier-Gorlin syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
T466I (p.Thr466Ile) variant details
- p.Thr466Ile
- rs1131692169
- ClinGen CA411347046
- ClinVar RCV000495569
- UniProt VAR 079198
- Pathogenic
- Meier-Gorlin syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.41
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Meier-Gorlin syndrome 8)
- EBI: Pathogenic (in MGORS8)
- UniProt: Pathogenic (in MGORS8)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome. (PMID 28198391)