P72S (p.Pro72Ser) variant of EDNRB (Endothelin receptor type B)
P72S (p.Pro72Ser) 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 not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P72S (p.Pro72Ser) variant details
- p.Pro72Ser
- rs150750272
- ClinGen CA7012377
- ClinVar RCV002619703
- ClinVar RCV006460458
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- CADD 14.80
- PolyPhen-2 0.05
- SIFT 0.15
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available