L16P (p.Leu16Pro) variant of COL4A3 (Collagen alpha-3(IV) chain)
L16P (p.Leu16Pro) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L16P (p.Leu16Pro) variant details
- p.Leu16Pro
- gnomAD 2-227164773-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.50
- CADD 19.10
- PolyPhen-2 0.37
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available