R83H (p.Arg83His) variant of EDNRB (Endothelin receptor type B)
R83H (p.Arg83His) 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 0.32 / 1. The record also includes population frequency data and structural context.
R83H (p.Arg83His) variant details
- p.Arg83His
- NCI-TCGA Cosmic COSV5751
- cosmic curated COSV57518
- Ensembl rs1879919961
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- AlphaMissense 0.09
- MetaLR 0.09
- MetaSVM -1.01
- CADD 18.40
- PolyPhen-2 0.06
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available