V159E (p.Val159Glu) variant of C3 (Complement C3)
V159E (p.Val159Glu) in C3 (Complement C3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Complement component 3 deficiency; C3 glomerulonephritis; Atypical hemolytic-ure. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
V159E (p.Val159Glu) variant details
- p.Val159Glu
- TOPMed rs1237755110
- gnomAD rs1237755110
- Uncertain significance
- Complement component 3 deficiency; C3 glomerulonephritis; Atypical hemolytic-ure
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.45
- CADD 23.00
- PolyPhen-2 0.78
- SIFT 0.07
- ClinVar: Uncertain significance (Complement component 3 deficiency; C3 glomerulonephritis; Atypic)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available