G69D (p.Gly69Asp) variant of COL1A2 (Collagen alpha-2(I) chain)
G69D (p.Gly69Asp) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G69D (p.Gly69Asp) variant details
- p.Gly69Asp
- gnomAD rs1305273108
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.91
- CADD 27.30
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available