A100E (p.Ala100Glu) variant of PROS1 (Vitamin K-dependent protein S)
A100E (p.Ala100Glu) in PROS1 (Vitamin K-dependent protein S) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
A100E (p.Ala100Glu) variant details
- p.Ala100Glu
- ESP rs375363379
- ExAC rs375363379
- TOPMed rs375363379
- gnomAD rs375363379
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.17
- CADD 9.83
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)