G59R (p.Gly59Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
G59R (p.Gly59Arg) in COL11A1 (Collagen alpha-1(XI) chain) 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 0.70 / 1. The record also includes population frequency data and structural context.
G59R (p.Gly59Arg) variant details
- p.Gly59Arg
- rs1044368824
- TOPMed rs1044368824
- gnomAD rs1044368824
- ClinGen CA27756350
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 26.90
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available