E50D (p.Glu50Asp) variant of COMP (P49747)
E50D (p.Glu50Asp) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
E50D (p.Glu50Asp) variant details
- p.Glu50Asp
- UniProt VAR 016254
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.45
- Population evidence available
- Structural context available
- Cited in: Characterization of human and mouse cartilage oligomeric matrix protein. (PMID 7713493)