A37P (p.Ala37Pro) variant of F5 (Coagulation factor V)
A37P (p.Ala37Pro) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
A37P (p.Ala37Pro) variant details
- p.Ala37Pro
- TOPMed rs1249107594
- gnomAD rs1249107594
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.84
- CADD 24.40
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available