P383S (p.Pro383Ser) variant of F10 (Coagulation factor X)
P383S (p.Pro383Ser) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
P383S (p.Pro383Ser) variant details
- p.Pro383Ser
- rs121964940
- ClinGen CA256478706
- ClinVar RCV000012837
- UniProt VAR 065447
- Pathogenic
- Factor X deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.82
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Factor X deficiency)
- EBI: Pathogenic (in FA10D)
- UniProt: Pathogenic (in FA10D)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Molecular defect in coagulation factor XFriuli results from a substitution of serine for proline at position 343. (PMID 1985698)
- Cited in: A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo). (PMID 10468877)