V21I (p.Val21Ile) variant of PROS1 (Vitamin K-dependent protein S)
V21I (p.Val21Ile) 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 0.39 / 1. The record also includes population frequency data and published literature.
V21I (p.Val21Ile) variant details
- p.Val21Ile
- rs754518511
- ClinGen CA2503624
- ClinVar RCV003175421
- ExAC rs754518511
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.23
- CADD 9.12
- PolyPhen-2 0.04
- SIFT 0.41
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)