Y122H (p.Tyr122His) variant of F13B (Coagulation factor XIII B chain)
Y122H (p.Tyr122His) in F13B (Coagulation factor XIII B 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 0.67 / 1. The record also includes population frequency data and structural context.
Y122H (p.Tyr122His) variant details
- p.Tyr122His
- rs1248042126
- NCI-TCGA Cosmic COSV1008
- NCI-TCGA Cosmic COSV6637
- TOPMed rs1248042126
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.76
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available