G120C (p.Gly120Cys) variant of COMP (P49747)
G120C (p.Gly120Cys) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
G120C (p.Gly120Cys) variant details
- p.Gly120Cys
- rs2145904819
- ClinGen CA404898339
- ClinVar RCV001880401
- Ensembl rs2145904819
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available