G20S (p.Gly20Ser) variant of EDNRB (Endothelin receptor type B)
G20S (p.Gly20Ser) 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 0.23 / 1. The record also includes population frequency data and structural context.
G20S (p.Gly20Ser) variant details
- p.Gly20Ser
- rs762469442
- NCI-TCGA Cosmic COSV5752
- cosmic curated COSV57525
- ExAC rs762469442
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available