A8T (p.Ala8Thr) variant of F13A1 (Coagulation factor XIII A chain)
A8T (p.Ala8Thr) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- rs138865075
- ClinGen CA3624799
- ClinVar RCV001413147
- ClinVar RCV002554040
- Likely benign
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.35
- MetaLR 0.10
- MetaSVM -0.98
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHS population (allele frequency 0.0054)
- 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)