Y22C (p.Tyr22Cys) variant of F9 (Coagulation factor IX)
Y22C (p.Tyr22Cys) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Y22C (p.Tyr22Cys) variant details
- p.Tyr22Cys
- ExAC rs772442973
- gnomAD rs772442973
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.30
- MetaLR 0.63
- MetaSVM -0.26
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available