V5E (p.Val5Glu) variant of COL1A2 (Collagen alpha-2(I) chain)
V5E (p.Val5Glu) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
V5E (p.Val5Glu) variant details
- p.Val5Glu
- gnomAD 7-94395045-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.78
- CADD 29.10
- PolyPhen-2 0.62
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available