G108C (p.Gly108Cys) variant of COMP (P49747)
G108C (p.Gly108Cys) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
G108C (p.Gly108Cys) variant details
- p.Gly108Cys
- TOPMed rs1469607897
- gnomAD rs1469607897
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.74
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.7e-05)
- Structural context available