T136N (p.Thr136Asn) variant of C5 (Complement C5)
T136N (p.Thr136Asn) 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 0.43 / 1. The record also includes population frequency data and structural context.
T136N (p.Thr136Asn) variant details
- p.Thr136Asn
- rs776192715
- ClinGen CA5218411
- ClinVar RCV001890992
- ClinVar RCV002478265
- Uncertain significance
- Eculizumab, poor response to; Complement component 5 deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.33
- MetaLR 0.49
- MetaSVM -0.22
- CADD 24.20
- PolyPhen-2 0.95
- SIFT 0.09
- ClinVar: Uncertain significance (Eculizumab, poor response to; Complement component 5 deficiency;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00042)
- Structural context available