E57Q (p.Glu57Gln) variant of PROS1 (Vitamin K-dependent protein S)
E57Q (p.Glu57Gln) in PROS1 (Vitamin K-dependent protein S) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data.
E57Q (p.Glu57Gln) variant details
- p.Glu57Gln
- ExAC rs757051970
- gnomAD rs757051970
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.90
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)