R57L (p.Arg57Leu) variant of PROC (Vitamin K-dependent protein C)
R57L (p.Arg57Leu) in PROC (Vitamin K-dependent protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
R57L (p.Arg57Leu) variant details
- p.Arg57Leu
- 1000Genomes rs574949343
- ExAC rs574949343
- TOPMed rs574949343
- gnomAD rs574949343
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.96
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available