P81L (p.Pro81Leu) variant of EDNRB (Endothelin receptor type B)
P81L (p.Pro81Leu) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
P81L (p.Pro81Leu) variant details
- p.Pro81Leu
- rs756427784
- ClinGen CA7012373
- NCI-TCGA Cosmic COSV5752
- cosmic curated COSV57524
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available