T126N (p.Thr126Asn) variant of COMP (P49747)
T126N (p.Thr126Asn) 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 0.24 / 1. The record also includes population frequency data and structural context.
T126N (p.Thr126Asn) variant details
- p.Thr126Asn
- TOPMed rs886054305
- gnomAD rs886054305
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.04
- ESM-1b 1.00
- AlphaMissense 0.09
- CADD 18.60
- PolyPhen-2 0.06
- SIFT 0.39
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available