S30R (p.Ser30Arg) variant of PROC (Vitamin K-dependent protein C)
S30R (p.Ser30Arg) in PROC (Vitamin K-dependent protein C) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S30R (p.Ser30Arg) variant details
- p.Ser30Arg
- 1000Genomes rs552714462
- ExAC rs552714462
- TOPMed rs552714462
- gnomAD rs552714462
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.32
- CADD 6.08
- PolyPhen-2 0.04
- SIFT 0.19
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available