D51H (p.Asp51His) variant of C5 (Complement C5)
D51H (p.Asp51His) in C5 (Complement C5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
D51H (p.Asp51His) variant details
- p.Asp51His
- rs773479432
- ExAC rs773479432
- gnomAD rs773479432
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.16
- MetaLR 0.11
- MetaSVM -0.84
- CADD 23.10
- PolyPhen-2 0.61
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available