A109G (p.Ala109Gly) variant of COMP (P49747)
A109G (p.Ala109Gly) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
A109G (p.Ala109Gly) variant details
- p.Ala109Gly
- UniProt VAR 016257
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- ESM-1b 0.07
- AlphaMissense 0.11
- Structural context available
- Cited in: Characterization of human and mouse cartilage oligomeric matrix protein. (PMID 7713493)