L20I (p.Leu20Ile) variant of COL4A3 (Collagen alpha-3(IV) chain)
L20I (p.Leu20Ile) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L20I (p.Leu20Ile) variant details
- p.Leu20Ile
- gnomAD 2-227164784-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.13
- CADD 15.50
- PolyPhen-2 0.14
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available