A178P (p.Ala178Pro) variant of PROC (Vitamin K-dependent protein C)
A178P (p.Ala178Pro) 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 not provided; Reduced protein C activity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A178P (p.Ala178Pro) variant details
- p.Ala178Pro
- rs1254257945
- ClinGen CA348400305
- ClinVar RCV000852153
- ClinVar RCV006278077
- Likely pathogenic
- not provided; Reduced protein C activity
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.59
- CADD 3.47
- PolyPhen-2 0.47
- SIFT 0.27
- ClinVar: Likely pathogenic (not provided; Reduced protein C activity)
- EBI: Pathogenic (in THPH4)
- UniProt: Pathogenic (in THPH4)
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available
- Cited in: Homozygous type I protein C deficiency in two unrelated families exhibiting thrombophilia related to Ala136-->Pro or… (PMID 7878626)
- Cited in: A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis. (PMID 1511988)