L20F (p.Leu20Phe) variant of COL4A3 (Collagen alpha-3(IV) chain)
L20F (p.Leu20Phe) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L20F (p.Leu20Phe) variant details
- p.Leu20Phe
- gnomAD 2-227164784-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.17
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.91
- Population evidence available
- Structural context available
- Literature evidence available