E50G (p.Glu50Gly) variant of COMP (P49747)
E50G (p.Glu50Gly) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E50G (p.Glu50Gly) variant details
- p.Glu50Gly
- Ensembl rs2055208186
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.11
- CADD 25.90
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available