G73R (p.Gly73Arg) variant of COMP (P49747)
G73R (p.Gly73Arg) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G73R (p.Gly73Arg) variant details
- p.Gly73Arg
- ExAC rs746866867
- TOPMed rs746866867
- gnomAD rs746866867
- cosmic curated COSV55875
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.46
- ESM-1b 0.84
- AlphaMissense 0.47
- CADD 35.00
- PolyPhen-2 0.97
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available