L19R (p.Leu19Arg) variant of PROS1 (Vitamin K-dependent protein S)
L19R (p.Leu19Arg) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
L19R (p.Leu19Arg) variant details
- p.Leu19Arg
- ExAC rs752290481
- gnomAD rs752290481
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.58
- CADD 22.70
- PolyPhen-2 0.50
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)