Y121C (p.Tyr121Cys) variant of C5 (Complement C5)
Y121C (p.Tyr121Cys) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Y121C (p.Tyr121Cys) variant details
- p.Tyr121Cys
- ExAC rs775968008
- TOPMed rs775968008
- gnomAD rs775968008
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.29
- MetaLR 0.19
- MetaSVM -0.80
- CADD 24.10
- PolyPhen-2 0.86
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available