P32L (p.Pro32Leu) variant of EDNRB (Endothelin receptor type B)
P32L (p.Pro32Leu) in EDNRB (Endothelin receptor type B) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- cosmic curated COSV57527
- TOPMed rs1879933607
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available