G69D (p.Gly69Asp) variant of C5 (Complement C5)
G69D (p.Gly69Asp) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
G69D (p.Gly69Asp) variant details
- p.Gly69Asp
- Ensembl rs2047626210
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.14
- MetaLR 0.06
- MetaSVM -1.00
- CADD 8.37
- PolyPhen-2 0.02
- SIFT 0.19
- Population evidence available
- Structural context available