L12V (p.Leu12Val) variant of PROS1 (Vitamin K-dependent protein S)
L12V (p.Leu12Val) in PROS1 (Vitamin K-dependent protein S) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
L12V (p.Leu12Val) variant details
- p.Leu12Val
- ExAC rs781259302
- gnomAD rs781259302
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.61
- CADD 22.50
- PolyPhen-2 0.95
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 9e-07)