S2125T (p.Ser2125Thr) variant of F8 (Coagulation factor VIII)
S2125T (p.Ser2125Thr) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary factor VIII deficiency disease; Thrombophilia, X-linked, due to facto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
S2125T (p.Ser2125Thr) variant details
- p.Ser2125Thr
- rs782363141
- ClinGen CA10567864
- ClinVar RCV000991019
- ClinVar RCV002479157
- Uncertain significance
- Hereditary factor VIII deficiency disease; Thrombophilia, X-linked, due to facto
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.94
- MetaLR 0.99
- MetaSVM 1.02
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary factor VIII deficiency disease; Thrombophilia, X-link)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.002)
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)