P108T (p.Pro108Thr) variant of PROS1 (Vitamin K-dependent protein S)
P108T (p.Pro108Thr) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Thrombophilia due to protein S deficiency, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data.
P108T (p.Pro108Thr) variant details
- p.Pro108Thr
- NCI-TCGA TCGA novel
- TOPMed rs1708746199
- Uncertain significance
- Thrombophilia due to protein S deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.15
- CADD 9.42
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (Thrombophilia due to protein S deficiency, autosomal recessive)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)