L16I (p.Leu16Ile) variant of COL4A3 (Collagen alpha-3(IV) chain)
L16I (p.Leu16Ile) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L16I (p.Leu16Ile) variant details
- p.Leu16Ile
- gnomAD 2-227164772-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.17
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available