I28V (p.Ile28Val) variant of C3 (Complement C3)
I28V (p.Ile28Val) 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 0.09 / 1. The record also includes population frequency data and structural context.
I28V (p.Ile28Val) variant details
- p.Ile28Val
- rs2512272247
- ClinGen CA403646328
- ClinVar RCV003667621
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0865
- REVEL 0.03
- CADD 13.60
- PolyPhen-2 0.04
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available