T7I (p.Thr7Ile) variant of F13A1 (Coagulation factor XIII A chain)
T7I (p.Thr7Ile) in F13A1 (Coagulation factor XIII A chain) 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 0.22 / 1. The record also includes population frequency data and structural context.
T7I (p.Thr7Ile) variant details
- p.Thr7Ile
- rs749947217
- NCI-TCGA Cosmic COSV5355
- ExAC rs749947217
- TOPMed rs749947217
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.23
- MetaLR 0.14
- MetaSVM -0.94
- CADD 7.44
- PolyPhen-2 0.01
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available