A69T (p.Ala69Thr) variant of PROC (Vitamin K-dependent protein C)
A69T (p.Ala69Thr) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thrombophilia due to protein C deficiency, autosomal dominant. The record also includes structural context.
A69T (p.Ala69Thr) variant details
- p.Ala69Thr
- rs2104944789
- ClinGen CA348398136
- ClinVar RCV001366397
- Ensembl rs2104944789
- Uncertain significance
- Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- ClinVar: Uncertain significance (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available