V37F (p.Val37Phe) variant of PROS1 (Vitamin K-dependent protein S)
V37F (p.Val37Phe) 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; Thrombophilia due to protein S deficiency, autosomal re. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and published literature.
V37F (p.Val37Phe) variant details
- p.Val37Phe
- rs773551347
- ClinGen CA353674679
- ClinVar RCV002915074
- ClinVar RCV003643036
- Uncertain significance
- Inborn genetic diseases; Thrombophilia due to protein S deficiency, autosomal re
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.22
- CADD 0.68
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (Inborn genetic diseases; Thrombophilia due to protein S deficien)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)