T105M (p.Thr105Met) variant of COMP (P49747)
T105M (p.Thr105Met) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple epiphyseal dysplasia type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
T105M (p.Thr105Met) variant details
- p.Thr105Met
- rs1377001812
- ClinGen CA404898525
- ClinVar RCV001809006
- TOPMed rs1377001812
- Uncertain significance
- Multiple epiphyseal dysplasia type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.38
- MetaSVM -0.18
- PolyPhen-2 1.00
- SIFT 0.14
- ClinVar: Uncertain significance (Multiple epiphyseal dysplasia type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Multiple Epiphyseal Dysplasia, Autosomal Dominant. (PMID 20301302)