Q39L (p.Gln39Leu) variant of COMP (P49747)
Q39L (p.Gln39Leu) 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.
Q39L (p.Gln39Leu) variant details
- p.Gln39Leu
- ESP rs369162037
- ExAC rs369162037
- TOPMed rs369162037
- gnomAD rs369162037
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available