Y44S (p.Tyr44Ser) variant of C5 (Complement C5)
Y44S (p.Tyr44Ser) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Y44S (p.Tyr44Ser) variant details
- p.Tyr44Ser
- 1000Genomes rs569108023
- ExAC rs569108023
- gnomAD rs569108023
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.17
- MetaLR 0.06
- MetaSVM -1.02
- CADD 23.50
- PolyPhen-2 0.14
- SIFT 0.02
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available