L46P (p.Leu46Pro) variant of PROS1 (Vitamin K-dependent protein S)
L46P (p.Leu46Pro) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Thrombophilia due to protein S deficiency, autosomal dominant; Protein S deficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and published literature.
L46P (p.Leu46Pro) variant details
- p.Leu46Pro
- rs779469907
- ClinGen CA2503584
- ClinVar RCV000851694
- ClinVar RCV005001996
- Conflicting interpretations
- Thrombophilia due to protein S deficiency, autosomal dominant; Protein S deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.70
- CADD 25.30
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Thrombophilia due to protein S deficiency, autosomal dominant; P)
- 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)