R32P (p.Arg32Pro) variant of PROC (Vitamin K-dependent protein C)
R32P (p.Arg32Pro) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in THPH3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R32P (p.Arg32Pro) variant details
- p.Arg32Pro
- ExAC rs746654539
- TOPMed rs746654539
- gnomAD rs746654539
- Uncertain significance
- in THPH3
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.61
- CADD 8.50
- PolyPhen-2 0.21
- SIFT 0.16
- EBI: Variant of uncertain significance (in THPH3)
- UniProt: Uncertain significance (in THPH3)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available