L12P (p.Leu12Pro) variant of COL4A3 (Collagen alpha-3(IV) chain)
L12P (p.Leu12Pro) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- gnomAD 2-227164761-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.41
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available