V56A (p.Val56Ala) variant of F9 (Coagulation factor IX)
V56A (p.Val56Ala) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V56A (p.Val56Ala) variant details
- p.Val56Ala
- cosmic curated COSV54381
- TOPMed rs1927495027
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.40
- MetaLR 0.89
- MetaSVM 0.55
- CADD 17.10
- SIFT 0.05
- Most common in the South Asian population (allele frequency 0.00037)
- Structural context available