D35T (p.Asp35Thr) variant of COL4A3 (Collagen alpha-3(IV) chain)
D35T (p.Asp35Thr) in COL4A3 (Collagen alpha-3(IV) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
D35T (p.Asp35Thr) variant details
- p.Asp35Thr
- gnomAD 2-227237979-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 22.50
- Population evidence available
- Structural context available
- Literature evidence available