T119K (p.Thr119Lys) variant of COMP (P49747)
T119K (p.Thr119Lys) in COMP (P49747) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
T119K (p.Thr119Lys) variant details
- p.Thr119Lys
- TOPMed rs1292218782
- gnomAD rs1292218782
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 23.10
- PolyPhen-2 0.75
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available