Y40C (p.Tyr40Cys) variant of F13B (Coagulation factor XIII B chain)
Y40C (p.Tyr40Cys) 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 0.42 / 1. The record also includes population frequency data and structural context.
Y40C (p.Tyr40Cys) variant details
- p.Tyr40Cys
- rs1453580885
- NCI-TCGA Cosmic COSV6637
- gnomAD rs1453580885
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.32
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available