S312L (p.Ser312Leu) variant of PROC (Vitamin K-dependent protein C)
S312L (p.Ser312Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
S312L (p.Ser312Leu) variant details
- p.Ser312Leu
- rs121918160
- ClinGen CA114431
- ClinVar RCV000000715
- ClinVar RCV005051730
- Pathogenic/Likely pathogenic
- not provided; Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.60
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.00
- 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 Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Symptomatic type 1 protein C deficiency caused by a de novo Ser270Leu mutation in the catalytic domain. (PMID 11380450)
- Cited in: Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis… (PMID 22545135)