Y23C (p.Tyr23Cys) variant of C5 (Complement C5)
Y23C (p.Tyr23Cys) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
Y23C (p.Tyr23Cys) variant details
- p.Tyr23Cys
- ExAC rs113419504
- TOPMed rs113419504
- gnomAD rs113419504
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.68
- MetaLR 0.26
- MetaSVM -0.55
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available