L14P (p.Leu14Pro) variant of COL4A3 (Collagen alpha-3(IV) chain)
L14P (p.Leu14Pro) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- gnomAD 2-227164767-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.52
- CADD 13.20
- PolyPhen-2 0.01
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available