K99Q (p.Lys99Gln) variant of F5 (Coagulation factor V)
K99Q (p.Lys99Gln) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of F5-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
K99Q (p.Lys99Gln) variant details
- p.Lys99Gln
- rs1298868363
- ClinGen CA343142128
- ClinVar RCV003901533
- TOPMed rs1298868363
- Uncertain significance
- F5-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.56
- CADD 19.80
- PolyPhen-2 0.36
- SIFT 0.28
- ClinVar: Uncertain significance (F5-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available