R10H (p.Arg10His) variant of EDNRB (Endothelin receptor type B)
R10H (p.Arg10His) in EDNRB (Endothelin receptor type B) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Waardenburg syndrome type 4A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R10H (p.Arg10His) variant details
- p.Arg10His
- NCI-TCGA Cosmic COSV5751
- cosmic curated COSV57519
- NCI-TCGA Cosmic COSV5752
- Likely benign
- Waardenburg syndrome type 4A
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Likely benign (Waardenburg syndrome type 4A)
- UniProt: Likely benign
- Population evidence available
- Structural context available