G2S (p.Gly2Ser) variant of C5 (Complement C5)
G2S (p.Gly2Ser) 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.
G2S (p.Gly2Ser) variant details
- p.Gly2Ser
- ExAC rs756642354
- gnomAD rs756642354
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.02
- MetaLR 0.06
- MetaSVM -1.04
- CADD 17.50
- PolyPhen-2 0.03
- SIFT 0.49
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available