E28Q (p.Glu28Gln) variant of COL1A2 (Collagen alpha-2(I) chain)
E28Q (p.Glu28Gln) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- gnomAD 7-94398382-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.24
- CADD 25.30
- PolyPhen-2 0.00
- SIFT 0.59
- Population evidence available
- Structural context available
- Literature evidence available