T98I (p.Thr98Ile) variant of PROS1 (Vitamin K-dependent protein S)
T98I (p.Thr98Ile) 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.
T98I (p.Thr98Ile) variant details
- p.Thr98Ile
- 1000Genomes rs142805170
- ESP rs142805170
- ExAC rs142805170
- TOPMed rs142805170
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.15
- CADD 5.39
- PolyPhen-2 0.05
- SIFT 0.18
- EBI: Variant of uncertain significance (in dbSNP:rs142805170)
- UniProt: Uncertain significance (in dbSNP:rs142805170)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)