L17P (p.Leu17Pro) variant of COL4A3 (Collagen alpha-3(IV) chain)
L17P (p.Leu17Pro) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L17P (p.Leu17Pro) variant details
- p.Leu17Pro
- gnomAD 2-227164776-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.53
- CADD 19.50
- PolyPhen-2 0.45
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available