T340K (p.Thr340Lys) variant of PROC (Vitamin K-dependent protein C)
T340K (p.Thr340Lys) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Reduced protein C activity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
T340K (p.Thr340Lys) variant details
- p.Thr340Lys
- rs766261022
- ClinGen CA348405477
- ClinVar RCV000851961
- ExAC rs766261022
- Likely pathogenic
- Reduced protein C activity
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- MutPred 0.94
- ClinVar: Likely pathogenic (Reduced protein C activity)
- EBI: Pathogenic (in THPH3)
- UniProt: Pathogenic (in THPH3)
- Structural context available