R40L (p.Arg40Leu) variant of PROS1 (Vitamin K-dependent protein S)
R40L (p.Arg40Leu) 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 not specified; Thrombophilia due to protein S deficiency, autosomal recessive; P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and published literature.
R40L (p.Arg40Leu) variant details
- p.Arg40Leu
- rs7614835
- ClinGen CA2503588
- ClinVar RCV000358997
- ClinVar RCV000554713
- Conflicting interpretations
- not specified; Thrombophilia due to protein S deficiency, autosomal recessive; P
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.68
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Thrombophilia due to protein S deficiency, autoso)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Most common in the HGDP:YORUBA population (allele frequency 0.071)
- Cited in: Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S… (PMID 7803790)
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)