A143T (p.Ala143Thr) variant of F5 (Coagulation factor V)
A143T (p.Ala143Thr) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A143T (p.Ala143Thr) variant details
- p.Ala143Thr
- TOPMed rs1242255525
- gnomAD rs1242255525
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.39
- CADD 17.60
- PolyPhen-2 0.70
- SIFT 0.34
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available