Y119N (p.Tyr119Asn) variant of F5 (Coagulation factor V)
Y119N (p.Tyr119Asn) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
Y119N (p.Tyr119Asn) variant details
- p.Tyr119Asn
- TOPMed rs1318995804
- gnomAD rs1318995804
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.94
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available