E106Q (p.Glu106Gln) variant of COMP (P49747)
E106Q (p.Glu106Gln) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
E106Q (p.Glu106Gln) variant details
- p.Glu106Gln
- TOPMed rs2055200390
- Missense
- Variant Prioritization Score for Impact Estimate 0.0732
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 6.42
- PolyPhen-2 0.06
- SIFT 0.52
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available