R32H (p.Arg32His) variant of C5 (Complement C5)
R32H (p.Arg32His) in C5 (Complement C5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Complement component 5 deficiency; Eculizumab, poor response to; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R32H (p.Arg32His) variant details
- p.Arg32His
- rs144876205
- ClinGen CA5218464
- ClinVar RCV001336396
- ClinVar RCV001865848
- Uncertain significance
- Complement component 5 deficiency; Eculizumab, poor response to; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.13
- MetaLR 0.04
- MetaSVM -0.98
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Complement component 5 deficiency; Eculizumab, poor response to;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DRUZE population (allele frequency 0.014)
- Structural context available