L13P (p.Leu13Pro) variant of COL4A3 (Collagen alpha-3(IV) chain)
L13P (p.Leu13Pro) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- gnomAD 2-227164764-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.30
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available