A23P (p.Ala23Pro) variant of COL4A3 (Collagen alpha-3(IV) chain)
A23P (p.Ala23Pro) in COL4A3 (Collagen alpha-3(IV) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A23P (p.Ala23Pro) variant details
- p.Ala23Pro
- gnomAD 2-227164792-GGCGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 24.60
- Population evidence available
- Structural context available
- Literature evidence available