V28A (p.Val28Ala) variant of COL3A1 (Collagen alpha-1(III) chain)
V28A (p.Val28Ala) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
V28A (p.Val28Ala) variant details
- p.Val28Ala
- gnomAD 2-188984763-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.16
- MetaLR 0.37
- MetaSVM -0.77
- CADD 2.99
- PolyPhen-2 0.00
- SIFT 0.88
- Population evidence available
- Structural context available
- Literature evidence available