C33V (p.Cys33Val) variant of COL4A3 (Collagen alpha-3(IV) chain)
C33V (p.Cys33Val) in COL4A3 (Collagen alpha-3(IV) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
C33V (p.Cys33Val) variant details
- p.Cys33Val
- gnomAD 2-227237976-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.372
- CADD 26.90
- Population evidence available
- Structural context available
- Literature evidence available