V16F (p.Val16Phe) variant of EDNRB (Endothelin receptor type B)
V16F (p.Val16Phe) in EDNRB (Endothelin receptor type B) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V16F (p.Val16Phe) variant details
- p.Val16Phe
- rs142767792
- ClinGen CA7012406
- ClinVar RCV003198956
- 1000Genomes rs142767792
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 16.10
- PolyPhen-2 0.08
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- 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)