V1841M (p.Val1841Met) variant of F5 (Coagulation factor V)
V1841M (p.Val1841Met) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Congenital factor V deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
V1841M (p.Val1841Met) variant details
- p.Val1841Met
- cosmic curated COSV10528
- ESP rs142537705
- ExAC rs142537705
- TOPMed rs142537705
- Pathogenic
- Congenital factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.69
- MetaLR 0.99
- MetaSVM 1.01
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Congenital factor V deficiency)
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available