Y121F (p.Tyr121Phe) variant of C5 (Complement C5)
Y121F (p.Tyr121Phe) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
Y121F (p.Tyr121Phe) variant details
- p.Tyr121Phe
- ExAC rs775968008
- TOPMed rs775968008
- gnomAD rs775968008
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.08
- MetaLR 0.08
- MetaSVM -0.99
- CADD 17.40
- PolyPhen-2 0.03
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available