V21L (p.Val21Leu) variant of PROS1 (Vitamin K-dependent protein S)
V21L (p.Val21Leu) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
V21L (p.Val21Leu) variant details
- p.Val21Leu
- ExAC rs754518511
- TOPMed rs754518511
- gnomAD rs754518511
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.23
- CADD 9.14
- PolyPhen-2 0.00
- SIFT 0.79
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)