P138T (p.Pro138Thr) variant of COMP (P49747)
P138T (p.Pro138Thr) 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 0.62 / 1. The record also includes structural context.
P138T (p.Pro138Thr) variant details
- p.Pro138Thr
- ExAC rs763966726
- TOPMed rs763966726
- gnomAD rs763966726
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- ESM-1b 1.00
- AlphaMissense 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available