V338M (p.Val338Met) variant of F10 (Coagulation factor X)
V338M (p.Val338Met) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V338M (p.Val338Met) variant details
- p.Val338Met
- rs121964947
- ClinGen CA256478666
- NCI-TCGA Cosmic COSV6502
- ClinVar RCV000012836
- Pathogenic
- Factor X deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.69
- CADD 23.30
- 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 analysis of the genotype-phenotype relationship in factor X deficiency. (PMID 10746568)
- Cited in: Inherited factor X deficiency: molecular genetics and pathophysiology. (PMID 9198147)