L20P (p.Leu20Pro) variant of COL4A3 (Collagen alpha-3(IV) chain)
L20P (p.Leu20Pro) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L20P (p.Leu20Pro) variant details
- p.Leu20Pro
- gnomAD 2-227164785-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.47
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available