H110N (p.His110Asn) variant of C5 (Complement C5)
H110N (p.His110Asn) in C5 (Complement C5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
H110N (p.His110Asn) variant details
- p.His110Asn
- rs143947726
- ClinGen CA5218424
- ClinVar RCV001454646
- ClinVar RCV003965898
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.13
- MetaLR 0.10
- MetaSVM -1.01
- CADD 23.30
- PolyPhen-2 0.63
- SIFT 0.03
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available