L446P (p.Leu446Pro) variant of PROS1 (Vitamin K-dependent protein S)
L446P (p.Leu446Pro) 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 0.74 / 1. The record also includes published literature.
L446P (p.Leu446Pro) variant details
- p.Leu446Pro
- rs2107137626
- ClinGen CA353668979
- ClinVar RCV002245350
- ClinVar RCV003313797
- Likely pathogenic
- Thrombophilia due to protein S deficiency, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- AlphaMissense 0.96
- MetaLR 0.69
- MetaSVM 0.54
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Likely pathogenic (Thrombophilia due to protein S deficiency, autosomal dominant)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Cited in: Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study. (PMID 15712227)
- Cited in: Molecular basis for protein S hereditary deficiency: genetic defects observed in 118 patients with type I and type IIa… (PMID 8765219)