R32H (p.Arg32His) variant of PROC (Vitamin K-dependent protein C)
R32H (p.Arg32His) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R32H (p.Arg32His) variant details
- p.Arg32His
- ExAC rs746654539
- TOPMed rs746654539
- gnomAD rs746654539
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.28
- CADD 6.64
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in THPH3)
- UniProt: Uncertain significance (in THPH3)
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available