D79V (p.Asp79Val) variant of PROS1 (Vitamin K-dependent protein S)
D79V (p.Asp79Val) 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 0.57 / 1. The record also includes population frequency data.
D79V (p.Asp79Val) variant details
- p.Asp79Val
- ExAC rs770400563
- TOPMed rs770400563
- gnomAD rs770400563
- Uncertain significance
- Thrombophilia due to protein S deficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.62
- CADD 25.70
- PolyPhen-2 0.26
- SIFT 0.00
- ClinVar: Uncertain significance (Thrombophilia due to protein S deficiency, autosomal recessive)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00036)