R10C (p.Arg10Cys) variant of EDNRB (Endothelin receptor type B)
R10C (p.Arg10Cys) 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 0.31 / 1. The record also includes population frequency data and structural context.
R10C (p.Arg10Cys) variant details
- p.Arg10Cys
- rs1204381719
- NCI-TCGA Cosmic COSV5752
- cosmic curated COSV57522
- gnomAD rs1204381719
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available