A159T (p.Ala159Thr) variant of F12 (Coagulation factor XII)
A159T (p.Ala159Thr) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A159T (p.Ala159Thr) variant details
- p.Ala159Thr
- rs536792519
- ClinGen CA3581482
- ClinVar RCV002789464
- 1000Genomes rs536792519
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.10
- CADD 13.00
- PolyPhen-2 0.35
- SIFT 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.0051)
- 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)