E28G (p.Glu28Gly) variant of COL1A2 (Collagen alpha-2(I) chain)
E28G (p.Glu28Gly) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E28G (p.Glu28Gly) variant details
- p.Glu28Gly
- gnomAD 7-94398383-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.24
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available