T340M (p.Thr340Met) variant of PROC (Vitamin K-dependent protein C)
T340M (p.Thr340Met) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombophilia due to protein C deficiency, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T340M (p.Thr340Met) variant details
- p.Thr340Met
- rs766261022
- ClinGen CA1859504
- NCI-TCGA Cosmic COSV5216
- cosmic curated COSV52167
- Pathogenic
- Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.75
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Pathogenic (in THPH3)
- UniProt: Pathogenic (in THPH3)
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency. (PMID 8292730)
- Cited in: Type I protein C deficiency in French Canadians: evidence of a founder effect and association of specific protein C… (PMID 9798967)