V30L (p.Val30Leu) variant of COL1A2 (Collagen alpha-2(I) chain)
V30L (p.Val30Leu) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V30L (p.Val30Leu) variant details
- p.Val30Leu
- gnomAD 7-94398388-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.18
- CADD 10.00
- PolyPhen-2 0.00
- SIFT 0.78
- Population evidence available
- Structural context available
- Literature evidence available