G53R (p.Gly53Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
G53R (p.Gly53Arg) 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 0.74 / 1. The record also includes population frequency data and structural context.
G53R (p.Gly53Arg) variant details
- p.Gly53Arg
- rs1230337575
- ClinGen CA341168794
- ClinVar RCV001943770
- TOPMed rs1230337575
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.74
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.01
- 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