T16A (p.Thr16Ala) variant of F9 (Coagulation factor IX)
T16A (p.Thr16Ala) 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.
T16A (p.Thr16Ala) variant details
- p.Thr16Ala
- NCI-TCGA Cosmic COSV5437
- cosmic curated COSV54378
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.23
- MetaLR 0.54
- MetaSVM -0.57
- CADD 9.44
- PolyPhen-2 0.01
- SIFT 0.65
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available