G73E (p.Gly73Glu) variant of COMP (P49747)
G73E (p.Gly73Glu) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G73E (p.Gly73Glu) variant details
- p.Gly73Glu
- cosmic curated COSV10807
- gnomAD rs1464641824
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.56
- CADD 27.00
- PolyPhen-2 0.90
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available