E57V (p.Glu57Val) variant of PROS1 (Vitamin K-dependent protein S)
E57V (p.Glu57Val) in PROS1 (Vitamin K-dependent protein S) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data.
E57V (p.Glu57Val) variant details
- p.Glu57Val
- ExAC rs751299946
- gnomAD rs751299946
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.97
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)