G117S (p.Gly117Ser) variant of COMP (P49747)
G117S (p.Gly117Ser) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G117S (p.Gly117Ser) variant details
- p.Gly117Ser
- gnomAD rs1397057797
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.62
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available