A119T (p.Ala119Thr) variant of F13B (Coagulation factor XIII B chain)
A119T (p.Ala119Thr) 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 0.05 / 1. The record also includes population frequency data and structural context.
A119T (p.Ala119Thr) variant details
- p.Ala119Thr
- rs778659939
- NCI-TCGA Cosmic COSV1008
- NCI-TCGA Cosmic COSV6637
- ExAC rs778659939
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.051
- REVEL 0.03
- CADD 0.65
- PolyPhen-2 0.01
- SIFT 0.74
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available