K68R (p.Lys68Arg) variant of F9 (Coagulation factor IX)
K68R (p.Lys68Arg) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
K68R (p.Lys68Arg) variant details
- p.Lys68Arg
- TOPMed rs1364356358
- Uncertain significance
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.29
- MetaLR 0.83
- MetaSVM 0.19
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Hereditary factor IX deficiency disease)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available