G99R (p.Gly99Arg) variant of COMP (P49747)
G99R (p.Gly99Arg) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G99R (p.Gly99Arg) variant details
- p.Gly99Arg
- TOPMed rs2055200682
- gnomAD rs2055200682
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.30
- CADD 26.20
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available