A309T (p.Ala309Thr) variant of PROC (Vitamin K-dependent protein C)
A309T (p.Ala309Thr) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Thrombophilia due to protein C deficiency, autosomal dominant; Her. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A309T (p.Ala309Thr) variant details
- p.Ala309Thr
- rs121918146
- ClinGen CA114396
- cosmic curated COSV99300
- ClinVar RCV000000697
- Pathogenic/Likely pathogenic
- not provided; Thrombophilia due to protein C deficiency, autosomal dominant; Her
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.58
- CADD 16.30
- PolyPhen-2 0.25
- SIFT 0.10
- ClinVar: Pathogenic/Likely pathogenic (not provided; Thrombophilia due to protein C deficiency, autosom)
- EBI: Pathogenic (in patients with PROC deficiency)
- UniProt: Pathogenic (in patients with PROC deficiency)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Homozygous protein C deficiency with late onset and recurrent coumarin-induced skin necrosis. (PMID 1347608)