I7M (p.Ile7Met) variant of F9 (Coagulation factor IX)
I7M (p.Ile7Met) in F9 (Coagulation factor IX) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
I7M (p.Ile7Met) variant details
- p.Ile7Met
- NCI-TCGA Cosmic COSV9949
- cosmic curated COSV99496
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.27
- MetaLR 0.62
- MetaSVM -0.13
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact. (in dbSNP:rs150190385)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available