V37L (p.Val37Leu) variant of PROS1 (Vitamin K-dependent protein S)
V37L (p.Val37Leu) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data.
V37L (p.Val37Leu) variant details
- p.Val37Leu
- ExAC rs773551347
- TOPMed rs773551347
- gnomAD rs773551347
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.17
- CADD 0.36
- PolyPhen-2 0.00
- SIFT 0.72
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)