V30V (p.Val30Val) variant of COL1A2 (Collagen alpha-2(I) chain)
V30V (p.Val30Val) in COL1A2 (Collagen alpha-2(I) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V30V (p.Val30Val) variant details
- p.Val30Val
- rs766090050
- gnomAD 7-94398390-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 10.90
- Population evidence available
- Structural context available
- Literature evidence available