I39T (p.Ile39Thr) variant of C5 (Complement C5)
I39T (p.Ile39Thr) in C5 (Complement C5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Eculizumab, poor response to; Complement component 5 deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I39T (p.Ile39Thr) variant details
- p.Ile39Thr
- rs1228951703
- ClinGen CA374732968
- ClinVar RCV001901488
- ClinVar RCV002478331
- Uncertain significance
- Eculizumab, poor response to; Complement component 5 deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.26
- MetaLR 0.10
- MetaSVM -0.92
- CADD 23.40
- PolyPhen-2 0.12
- SIFT 0.01
- ClinVar: Uncertain significance (Eculizumab, poor response to; Complement component 5 deficiency;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available