Q54E (p.Gln54Glu) variant of COMP (P49747)
Q54E (p.Gln54Glu) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
Q54E (p.Gln54Glu) variant details
- p.Gln54Glu
- TOPMed rs1429837995
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 22.20
- PolyPhen-2 0.30
- SIFT 0.25
- Population evidence available
- Structural context available