S99T (p.Ser99Thr) variant of F12 (Coagulation factor XII)
S99T (p.Ser99Thr) in F12 (Coagulation factor XII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S99T (p.Ser99Thr) variant details
- p.Ser99Thr
- rs529435077
- ClinGen CA3581527
- ClinVar RCV003725134
- ClinVar RCV005335870
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.47
- CADD 22.80
- PolyPhen-2 0.81
- SIFT 0.10
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- 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)