G36R (p.Gly36Arg) variant of EDN1 (Endothelin-1)
G36R (p.Gly36Arg) in EDN1 (Endothelin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G36R (p.Gly36Arg) variant details
- p.Gly36Arg
- rs183694577
- 1000Genomes rs183694577
- ExAC rs183694577
- TOPMed rs183694577
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.25
- MetaLR 0.31
- MetaSVM -0.75
- CADD 17.40
- PolyPhen-2 0.02
- SIFT 0.15
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available