G122C (p.Gly122Cys) variant of COMP (P49747)
G122C (p.Gly122Cys) 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 0.77 / 1. The record also includes population frequency data and structural context.
G122C (p.Gly122Cys) variant details
- p.Gly122Cys
- Ensembl rs2055199842
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available