A143P (p.Ala143Pro) variant of F5 (Coagulation factor V)
A143P (p.Ala143Pro) 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 0.36 / 1. The record also includes population frequency data and structural context.
A143P (p.Ala143Pro) variant details
- p.Ala143Pro
- TOPMed rs1242255525
- gnomAD rs1242255525
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.37
- CADD 13.90
- PolyPhen-2 0.09
- SIFT 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available