A540V (p.Ala540Val) variant of F5 (Coagulation factor V)
A540V (p.Ala540Val) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital factor V deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
A540V (p.Ala540Val) variant details
- p.Ala540Val
- rs761915766
- ClinGen CA343124062
- ClinVar RCV003596844
- NCI-TCGA TCGA novel
- Likely pathogenic
- Congenital factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.58
- MetaLR 0.91
- MetaSVM 0.85
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Likely pathogenic (Congenital factor V deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available