E105A (p.Glu105Ala) variant of C5 (Complement C5)
E105A (p.Glu105Ala) 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 0.29 / 1. The record also includes population frequency data and structural context.
E105A (p.Glu105Ala) variant details
- p.Glu105Ala
- rs754822238
- ClinGen CA5218427
- ClinVar RCV001966521
- ClinVar RCV002479609
- Uncertain significance
- Eculizumab, poor response to; Complement component 5 deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.19
- MetaLR 0.12
- MetaSVM -1.00
- CADD 23.00
- PolyPhen-2 0.20
- 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 Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available