R51H (p.Arg51His) variant of PROC (Vitamin K-dependent protein C)
R51H (p.Arg51His) in PROC (Vitamin K-dependent protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R51H (p.Arg51His) variant details
- p.Arg51His
- Ensembl rs1688080491
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.64
- CADD 22.90
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available