G35R (p.Gly35Arg) variant of EDN1 (Endothelin-1)
G35R (p.Gly35Arg) in EDN1 (Endothelin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
G35R (p.Gly35Arg) variant details
- p.Gly35Arg
- ExAC rs755650656
- TOPMed rs755650656
- gnomAD rs755650656
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.14
- MetaLR 0.23
- MetaSVM -0.80
- CADD 5.32
- PolyPhen-2 0.02
- SIFT 0.22
- ClinVar: Benign (not provided)
- UniProt: Benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available