E28V (p.Glu28Val) variant of COL1A2 (Collagen alpha-2(I) chain)
E28V (p.Glu28Val) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E28V (p.Glu28Val) variant details
- p.Glu28Val
- gnomAD 7-94398383-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.24
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available