S374P (p.Ser374Pro) variant of F10 (Coagulation factor X)
S374P (p.Ser374Pro) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Factor X deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
S374P (p.Ser374Pro) variant details
- p.Ser374Pro
- rs121964941
- ClinGen CA256478700
- NCI-TCGA Cosmic COSV6502
- ClinVar RCV000012840
- Pathogenic
- Factor X deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- AlphaMissense 0.73
- MetaLR 0.45
- MetaSVM -0.24
- PolyPhen-2 0.55
- SIFT 0.02
- EVE 0.45
- ClinVar: Pathogenic (Factor X deficiency)
- EBI: Pathogenic (in FA10D)
- UniProt: Pathogenic (in FA10D)
- Structural context available
- Cited in: A new factor X defect (factor X Padua 3): a compound heterozygous between true deficiency (Gly(380)-->Arg) and an… (PMID 11728527)
- Cited in: Molecular bases of CRM+ factor X deficiency: a frequent mutation (Ser334Pro) in the catalytic domain and a substitution… (PMID 7669671)