R7L (p.Arg7Leu) variant of PROS1 (Vitamin K-dependent protein S)
R7L (p.Arg7Leu) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and published literature.
R7L (p.Arg7Leu) variant details
- p.Arg7Leu
- rs1453399787
- ClinGen CA353674351
- ClinVar RCV003256833
- TOPMed rs1453399787
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.45
- CADD 13.20
- PolyPhen-2 0.18
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)