P68R (p.Pro68Arg) variant of EDNRB (Endothelin receptor type B)
P68R (p.Pro68Arg) 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 0.35 / 1. The record also includes published literature and structural context.
P68R (p.Pro68Arg) variant details
- p.Pro68Arg
- rs201737510
- ClinGen CA388452829
- ClinVar RCV004384566
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- AlphaMissense 0.08
- MetaLR 0.22
- MetaSVM -0.95
- PolyPhen-2 0.01
- SIFT 0.18
- MutPred 0.33
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)