L14Q (p.Leu14Gln) variant of C3 (Complement C3)
L14Q (p.Leu14Gln) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L14Q (p.Leu14Gln) variant details
- p.Leu14Gln
- TOPMed rs1968140026
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.68
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available