P32S (p.Pro32Ser) variant of EDNRB (Endothelin receptor type B)
P32S (p.Pro32Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P32S (p.Pro32Ser) variant details
- p.Pro32Ser
- rs200723251
- ClinGen CA7012398
- ClinVar RCV003719771
- ClinVar RCV005325788
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- CADD 8.44
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- 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)