T1367S (p.Thr1367Ser) variant of F8 (Coagulation factor VIII)
T1367S (p.Thr1367Ser) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombophilia, X-linked, due to factor 8 defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
T1367S (p.Thr1367Ser) variant details
- p.Thr1367Ser
- rs781812149
- ClinGen CA10568143
- ClinVar RCV002249961
- ExAC rs781812149
- Pathogenic
- Thrombophilia, X-linked, due to factor 8 defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.17
- MetaLR 0.91
- MetaSVM 0.62
- CADD 9.12
- PolyPhen-2 0.04
- SIFT 0.09
- ClinVar: Pathogenic (Thrombophilia, X-linked, due to factor 8 defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00038)
- Structural context available