G129R (p.Gly129Arg) variant of F13A1 (Coagulation factor XIII A chain)
G129R (p.Gly129Arg) in F13A1 (Coagulation factor XIII A 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G129R (p.Gly129Arg) variant details
- p.Gly129Arg
- rs755208423
- ClinGen CA3624672
- ClinVar RCV003370355
- ExAC rs755208423
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.47
- MetaLR 0.73
- MetaSVM 0.50
- CADD 23.90
- PolyPhen-2 0.36
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)