A26P (p.Ala26Pro) variant of COL4A3 (Collagen alpha-3(IV) chain)
A26P (p.Ala26Pro) in COL4A3 (Collagen alpha-3(IV) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A26P (p.Ala26Pro) variant details
- p.Ala26Pro
- gnomAD 2-227164800-CCGCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.468
- CADD 22.20
- Population evidence available
- Structural context available
- Literature evidence available