Q26H (p.Gln26His) variant of COL1A2 (Collagen alpha-2(I) chain)
Q26H (p.Gln26His) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q26H (p.Gln26His) variant details
- p.Gln26His
- gnomAD 7-94397755-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.31
- CADD 25.50
- PolyPhen-2 0.19
- SIFT 0.59
- Population evidence available
- Structural context available
- Literature evidence available