G17D (p.Gly17Asp) variant of COMP (P49747)
G17D (p.Gly17Asp) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- Ensembl rs944149003
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.16
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 14.00
- PolyPhen-2 0.14
- SIFT 0.48
- Population evidence available
- Structural context available