D151N (p.Asp151Asn) variant of C5 (Complement C5)
D151N (p.Asp151Asn) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D151N (p.Asp151Asn) variant details
- p.Asp151Asn
- ExAC rs778767530
- gnomAD rs778767530
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.20
- MetaLR 0.31
- MetaSVM -0.45
- CADD 27.20
- PolyPhen-2 0.52
- SIFT 0.05
- Most common in the South Asian population (allele frequency 6.4e-05)
- Structural context available