L34M (p.Leu34Met) variant of C3 (Complement C3)
L34M (p.Leu34Met) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L34M (p.Leu34Met) variant details
- p.Leu34Met
- gnomAD rs1488306123
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.15
- CADD 21.90
- PolyPhen-2 0.95
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available