T50I (p.Thr50Ile) variant of F5 (Coagulation factor V)
T50I (p.Thr50Ile) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital factor V deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
T50I (p.Thr50Ile) variant details
- p.Thr50Ile
- rs1404625718
- ClinGen CA343145970
- ClinVar RCV003763572
- TOPMed rs1404625718
- Uncertain significance
- Congenital factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.22
- CADD 14.30
- PolyPhen-2 0.06
- SIFT 0.11
- ClinVar: Uncertain significance (Congenital factor V deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available