G9R (p.Gly9Arg) variant of EDNRB (Endothelin receptor type B)
G9R (p.Gly9Arg) in EDNRB (Endothelin receptor type B) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
G9R (p.Gly9Arg) variant details
- p.Gly9Arg
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10052
- Ensembl rs914618888
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 9.32
- PolyPhen-2 0.00
- SIFT 0.26
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available