M6I (p.Met6Ile) variant of F9 (Coagulation factor IX)
M6I (p.Met6Ile) 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 0.32 / 1. The record also includes population frequency data and structural context.
M6I (p.Met6Ile) variant details
- p.Met6Ile
- NCI-TCGA Cosmic COSV5438
- cosmic curated COSV54380
- gnomAD rs1927324989
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.15
- MetaLR 0.55
- MetaSVM -0.57
- CADD 5.62
- PolyPhen-2 0.00
- SIFT 0.51
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 9.5e-05)
- Structural context available