G22D (p.Gly22Asp) variant of COMP (P49747)
G22D (p.Gly22Asp) in COMP (P49747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G22D (p.Gly22Asp) variant details
- p.Gly22Asp
- TOPMed rs1445255027
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 16.10
- PolyPhen-2 0.44
- SIFT 0.63
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available