C125G (p.Cys125Gly) variant of COMP (P49747)
C125G (p.Cys125Gly) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
C125G (p.Cys125Gly) variant details
- p.Cys125Gly
- ExAC rs747401384
- gnomAD rs747401384
- Missense
- Variant Prioritization Score for Impact Estimate 0.993
- ESM-1b 1.00
- AlphaMissense 0.98
- Structural context available