G94D (p.Gly94Asp) variant of COMP (P49747)
G94D (p.Gly94Asp) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G94D (p.Gly94Asp) variant details
- p.Gly94Asp
- gnomAD rs1378449590
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.02
- ESM-1b 1.00
- AlphaMissense 0.09
- CADD 16.10
- PolyPhen-2 0.02
- SIFT 0.10
- Population evidence available
- Structural context available