V30E (p.Val30Glu) variant of COL1A2 (Collagen alpha-2(I) chain)
V30E (p.Val30Glu) in COL1A2 (Collagen alpha-2(I) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
V30E (p.Val30Glu) variant details
- p.Val30Glu
- gnomAD 7-94398388-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.609
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available