T43N (p.Thr43Asn) variant of F12 (Coagulation factor XII)
T43N (p.Thr43Asn) in F12 (Coagulation factor XII) 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 0.24 / 1. The record also includes population frequency data and structural context.
T43N (p.Thr43Asn) variant details
- p.Thr43Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.13
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available