Y39C (p.Tyr39Cys) variant of COL3A1 (Collagen alpha-1(III) chain)
Y39C (p.Tyr39Cys) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Y39C (p.Tyr39Cys) variant details
- p.Tyr39Cys
- gnomAD 2-188984796-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.83
- MetaLR 0.76
- MetaSVM 0.82
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available