S28A (p.Ser28Ala) variant of COL4A3 (Collagen alpha-3(IV) chain)
S28A (p.Ser28Ala) in COL4A3 (Collagen alpha-3(IV) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
S28A (p.Ser28Ala) variant details
- p.Ser28Ala
- gnomAD 2-227164805-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.658
- CADD 20.30
- Population evidence available
- Structural context available
- Literature evidence available