G69C (p.Gly69Cys) variant of COL11A1 (Collagen alpha-1(XI) chain)
G69C (p.Gly69Cys) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G69C (p.Gly69Cys) variant details
- p.Gly69Cys
- TOPMed rs1244439112
- gnomAD rs1244439112
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.41
- CADD 24.40
- PolyPhen-2 0.42
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available