R34I (p.Arg34Ile) variant of F13B (Coagulation factor XIII B chain)
R34I (p.Arg34Ile) 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 0.34 / 1. The record also includes population frequency data and structural context.
R34I (p.Arg34Ile) variant details
- p.Arg34Ile
- rs756961824
- NCI-TCGA Cosmic COSV6637
- ExAC rs756961824
- gnomAD rs756961824
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.34
- CADD 24.40
- PolyPhen-2 0.93
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available