L12I (p.Leu12Ile) variant of COL4A3 (Collagen alpha-3(IV) chain)
L12I (p.Leu12Ile) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L12I (p.Leu12Ile) variant details
- p.Leu12Ile
- gnomAD 2-227164760-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.13
- CADD 6.56
- PolyPhen-2 0.03
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available