V30I (p.Val30Ile) variant of COL1A2 (Collagen alpha-2(I) chain)
V30I (p.Val30Ile) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V30I (p.Val30Ile) variant details
- p.Val30Ile
- TOPMed rs1791623420
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.21
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.56
- Population evidence available
- Structural context available