T92S (p.Thr92Ser) variant of F13B (Coagulation factor XIII B chain)
T92S (p.Thr92Ser) in F13B (Coagulation factor XIII B chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
T92S (p.Thr92Ser) variant details
- p.Thr92Ser
- rs1655879228
- ClinGen CA344007474
- NCI-TCGA Cosmic COSV1008
- ClinVar RCV003362240
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- AlphaMissense 0.07
- MetaLR 0.07
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 0.95
- EVE 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)