G110R (p.Gly110Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G110R (p.Gly110Arg) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar 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 0.86 / 1. The record also includes population frequency data and structural context.
G110R (p.Gly110Arg) variant details
- p.Gly110Arg
- TOPMed rs959921134
- gnomAD rs959921134
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.87
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available