D401N (p.Asp401Asn) variant of PROC (Vitamin K-dependent protein C)
D401N (p.Asp401Asn) 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 Inborn genetic diseases; Reduced protein C activity; Thrombophilia due to protei. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
D401N (p.Asp401Asn) variant details
- p.Asp401Asn
- rs142742242
- ClinGen CA211710
- ClinVar RCV000148740
- ClinVar RCV000851669
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Reduced protein C activity; Thrombophilia due to protei
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.84
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Reduced protein C activity; Thrombophil)
- EBI: Pathogenic (in THPH3)
- UniProt: Pathogenic (in THPH3)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Six missense mutations associated with type I and type II protein C deficiency and implications obtained from molecular… (PMID 7865674)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)