D79Y (p.Asp79Tyr) variant of PROS1 (Vitamin K-dependent protein S)
D79Y (p.Asp79Tyr) 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 Thrombophilia due to protein S deficiency, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
D79Y (p.Asp79Tyr) variant details
- p.Asp79Tyr
- rs776082764
- ClinGen CA2503547
- ClinVar RCV003529475
- ExAC rs776082764
- Uncertain significance
- Thrombophilia due to protein S deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.81
- CADD 35.00
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (Thrombophilia due to protein S deficiency, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5.9e-05)