E39K (p.Glu39Lys) variant of C3 (Complement C3)
E39K (p.Glu39Lys) 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 0.33 / 1. The record also includes population frequency data and structural context.
E39K (p.Glu39Lys) variant details
- p.Glu39Lys
- rs771084936
- ClinGen CA9129895
- NCI-TCGA Cosmic COSV5558
- ClinVar RCV002607910
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.20
- AlphaMissense 0.14
- MetaLR 0.09
- MetaSVM -1.00
- CADD 11.80
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available