I29V (p.Ile29Val) variant of C3 (Complement C3)
I29V (p.Ile29Val) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
I29V (p.Ile29Val) variant details
- p.Ile29Val
- rs1420892330
- ClinGen CA403646321
- ClinVar RCV002038883
- ClinVar RCV005017100
- Uncertain significance
- Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 a
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.13
- CADD 19.40
- PolyPhen-2 0.21
- SIFT 0.20
- ClinVar: Uncertain significance (Age related macular degeneration 9; Atypical hemolytic-uremic sy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. (PMID 19821824)
- Cited in: Atypical hemolytic-uremic syndrome. (PMID 19846853)