P3L (p.Pro3Leu) variant of C3 (Complement C3)
P3L (p.Pro3Leu) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- rs770131369
- ClinGen CA304805661
- ClinVar RCV003726958
- TOPMed rs770131369
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.12
- AlphaMissense 0.08
- MetaLR 0.26
- MetaSVM -0.95
- CADD 14.70
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available