T119M (p.Thr119Met) variant of COMP (P49747)
T119M (p.Thr119Met) in COMP (P49747) 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 0.35 / 1. The record also includes population frequency data and structural context.
T119M (p.Thr119Met) variant details
- p.Thr119Met
- rs1292218782
- ClinGen CA404898345
- ClinVar RCV002608812
- TOPMed rs1292218782
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.09
- CADD 24.80
- PolyPhen-2 0.93
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 9.1e-05)
- Structural context available