R101L (p.Arg101Leu) variant of PROS1 (Vitamin K-dependent protein S)
R101L (p.Arg101Leu) in PROS1 (Vitamin K-dependent protein S) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
R101L (p.Arg101Leu) variant details
- p.Arg101Leu
- TOPMed rs1470600953
- gnomAD rs1470600953
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.33
- CADD 22.30
- PolyPhen-2 0.99
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 0.00048)