M8V (p.Met8Val) variant of F9 (Coagulation factor IX)
M8V (p.Met8Val) 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 F9-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
M8V (p.Met8Val) variant details
- p.Met8Val
- ExAC rs746835466
- gnomAD rs746835466
- Uncertain significance
- F9-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.53
- MetaLR 0.68
- MetaSVM 0.53
- CADD 20.50
- PolyPhen-2 0.06
- SIFT 0.05
- ClinVar: Uncertain significance (F9-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available