V30A (p.Val30Ala) variant of COL1A2 (Collagen alpha-2(I) chain)
V30A (p.Val30Ala) in COL1A2 (Collagen alpha-2(I) chain) is a missense 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.
V30A (p.Val30Ala) variant details
- p.Val30Ala
- gnomAD 7-94398389-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.23
- CADD 8.52
- PolyPhen-2 0.00
- SIFT 0.91
- Population evidence available
- Structural context available
- Literature evidence available