R79C (p.Arg79Cys) variant of COMP (P49747)
R79C (p.Arg79Cys) in COMP (P49747) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R79C (p.Arg79Cys) variant details
- p.Arg79Cys
- ExAC rs768907479
- TOPMed rs768907479
- gnomAD rs768907479
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.07
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 23.50
- PolyPhen-2 0.51
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available