M65I (p.Met65Ile) variant of F9 (Coagulation factor IX)
M65I (p.Met65Ile) 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 0.25 / 1. The record also includes population frequency data and structural context.
M65I (p.Met65Ile) variant details
- p.Met65Ile
- rs763568424
- ExAC rs763568424
- gnomAD rs763568424
- NCI-TCGA Cosmic COSV5438
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.27
- MetaLR 0.70
- MetaSVM 0.24
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 9.2e-05)
- Structural context available