G69D (p.Gly69Asp) variant of COL11A1 (Collagen alpha-1(XI) chain)
G69D (p.Gly69Asp) 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 0.30 / 1. The record also includes population frequency data and structural context.
G69D (p.Gly69Asp) variant details
- p.Gly69Asp
- rs758610033
- ClinGen CA341168629
- ClinVar RCV003573927
- ExAC rs758610033
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.21
- ESM-1b 0.69
- AlphaMissense 0.07
- CADD 17.30
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available