A119S (p.Ala119Ser) variant of F13B (Coagulation factor XIII B chain)
A119S (p.Ala119Ser) 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 0.06 / 1. The record also includes population frequency data and structural context.
A119S (p.Ala119Ser) variant details
- p.Ala119Ser
- rs778659939
- NCI-TCGA Cosmic COSV1008
- NCI-TCGA Cosmic COSV6637
- ExAC rs778659939
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0593
- REVEL 0.05
- CADD 0.60
- PolyPhen-2 0.03
- SIFT 0.76
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available