A444V (p.Ala444Val) variant of F10 (Coagulation factor X)
A444V (p.Ala444Val) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor X deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A444V (p.Ala444Val) variant details
- p.Ala444Val
- gnomAD rs2036618837
- Likely pathogenic
- Hereditary factor X deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.73
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary factor X deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available