N59K (p.Asn59Lys) variant of F9 (Coagulation factor IX)
N59K (p.Asn59Lys) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
N59K (p.Asn59Lys) variant details
- p.Asn59Lys
- rs139089559
- ClinGen CA10529742
- ClinVar RCV001810604
- ESP rs139089559
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.89
- MetaLR 0.98
- MetaSVM 1.09
- CADD 18.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 6.5e-05)
- Structural context available