G324S (p.Gly324Ser) variant of PROC (Vitamin K-dependent protein C)
G324S (p.Gly324Ser) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Thrombophilia due to protein C deficiency, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G324S (p.Gly324Ser) variant details
- p.Gly324Ser
- rs571278160
- ClinGen CA1859497
- NCI-TCGA Cosmic COSV5216
- ClinVar RCV000689216
- Conflicting interpretations
- Thrombophilia due to protein C deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.53
- CADD 22.90
- PolyPhen-2 0.92
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (Thrombophilia due to protein C deficiency, autosomal dominant)
- EBI: Likely pathogenic (in THPH3)
- UniProt: Likely pathogenic (in THPH3)
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available