R42L (p.Arg42Leu) variant of PROC (Vitamin K-dependent protein C)
R42L (p.Arg42Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
R42L (p.Arg42Leu) variant details
- p.Arg42Leu
- ESP rs369504169
- ExAC rs369504169
- TOPMed rs369504169
- gnomAD rs369504169
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.94
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in THPH3)
- UniProt: Likely pathogenic (in THPH3)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available