R56G (p.Arg56Gly) variant of PROS1 (Vitamin K-dependent protein S)
R56G (p.Arg56Gly) in PROS1 (Vitamin K-dependent protein S) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
R56G (p.Arg56Gly) variant details
- p.Arg56Gly
- ESP rs377491237
- ExAC rs377491237
- TOPMed rs377491237
- gnomAD rs377491237
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.92
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)