P15L (p.Pro15Leu) variant of COL4A3 (Collagen alpha-3(IV) chain)
P15L (p.Pro15Leu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- NCI-TCGA TCGA novel
- TOPMed rs1260966222
- gnomAD rs1260966222
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.23
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.62
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available