T41S (p.Thr41Ser) variant of F12 (Coagulation factor XII)
T41S (p.Thr41Ser) in F12 (Coagulation factor XII) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
T41S (p.Thr41Ser) variant details
- p.Thr41Ser
- NCI-TCGA TCGA novel
- ExAC rs779717286
- gnomAD rs779717286
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.56
- CADD 24.90
- PolyPhen-2 0.70
- SIFT 0.04
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available