H72N (p.His72Asn) variant of C5 (Complement C5)
H72N (p.His72Asn) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
H72N (p.His72Asn) variant details
- p.His72Asn
- Ensembl rs1239344218
- Missense
- Variant Prioritization Score for Impact Estimate 0.0758
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -0.99
- CADD 1.99
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available