E130G (p.Glu130Gly) variant of COMP (P49747)
E130G (p.Glu130Gly) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
E130G (p.Glu130Gly) variant details
- p.Glu130Gly
- Ensembl rs935186880
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- ESM-1b 1.00
- AlphaMissense 0.96
- Structural context available