L51W (p.Leu51Trp) variant of COMP (P49747)
L51W (p.Leu51Trp) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
L51W (p.Leu51Trp) variant details
- p.Leu51Trp
- UniProt VAR 016255
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- ESM-1b 1.00
- AlphaMissense 0.50
- Structural context available
- Cited in: Characterization of human and mouse cartilage oligomeric matrix protein. (PMID 7713493)