N418Y (p.Asn418Tyr) variant of PROS1 (Vitamin K-dependent protein S)
N418Y (p.Asn418Tyr) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Thrombophilia due to protein S deficiency, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and published literature.
N418Y (p.Asn418Tyr) variant details
- p.Asn418Tyr
- rs753603433
- ClinGen CA2503240
- ClinVar RCV001353255
- ExAC rs753603433
- Likely pathogenic
- Thrombophilia due to protein S deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.28
- CADD 19.20
- PolyPhen-2 0.36
- SIFT 0.02
- ClinVar: Likely pathogenic (Thrombophilia due to protein S deficiency, autosomal dominant)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)