S50N (p.Ser50Asn) variant of F13B (Coagulation factor XIII B chain)
S50N (p.Ser50Asn) 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 0.14 / 1. The record also includes population frequency data and structural context.
S50N (p.Ser50Asn) variant details
- p.Ser50Asn
- rs1274967585
- NCI-TCGA Cosmic COSV6637
- gnomAD rs1274967585
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.09
- CADD 1.99
- PolyPhen-2 0.01
- SIFT 0.51
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available